SNP Links for Protein (Select 54859763) - SNP

Links from Protein

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Select item 14895792761.

rs1489579276 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:144007313 (GRCh38)
2:144764880 (GRCh37)
Canonical SPDI:: NC_000002.12:144007312:T:C
Gene:: GTDC1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.144007313T>C, NC_000002.11:g.144764880T>C, NM_024659.6:c.744A>G, NM_024659.5:c.744A>G, NM_024659.4:c.744A>G, NM_001164629.5:c.744A>G, NM_001164629.4:c.744A>G, NM_001164629.3:c.744A>G, NM_001164629.2:c.744A>G, NM_001006636.5:c.744A>G, NM_001006636.4:c.744A>G, NM_001006636.3:c.744A>G, XM_011511855.4:c.891A>G, XM_011511855.3:c.891A>G, XM_011511855.2:c.891A>G, XM_011511855.1:c.891A>G, XM_011511856.4:c.795A>G, XM_011511856.3:c.795A>G, XM_011511856.2:c.795A>G, XM_011511856.1:c.795A>G, NM_001284233.4:c.744A>G, NM_001284233.3:c.744A>G, NM_001284233.2:c.744A>G, NM_001284233.1:c.744A>G, NM_001354355.3:c.288A>G, NM_001354355.2:c.288A>G, NM_001354355.1:c.288A>G, NM_001284238.3:c.648A>G, NM_001284238.2:c.648A>G, NM_001284238.1:c.648A>G, NM_001284234.3:c.357A>G, NM_001284234.2:c.357A>G, NM_001284234.1:c.357A>G, NR_164809.2:n.1717A>G, NR_164809.1:n.1717A>G, NM_001376315.2:c.744A>G, NM_001376315.1:c.744A>G, NM_001354351.2:c.357A>G, NM_001354351.1:c.357A>G, NM_001376318.2:c.744A>G, NM_001376318.1:c.744A>G, NM_001376324.2:c.744A>G, NM_001376324.1:c.744A>G, NM_001376319.2:c.744A>G, NM_001376319.1:c.744A>G, NM_001376329.2:c.288A>G, NM_001376329.1:c.288A>G, NM_001354350.2:c.288A>G, NM_001354350.1:c.288A>G, NM_001376310.2:c.744A>G, NM_001376310.1:c.744A>G, NM_001376307.2:c.744A>G, NM_001376307.1:c.744A>G, NM_001376306.2:c.891A>G, NM_001376306.1:c.891A>G, NM_001376311.2:c.744A>G, NM_001376311.1:c.744A>G, NM_001376308.2:c.744A>G, NM_001376308.1:c.744A>G, NR_164805.2:n.1085A>G, NR_164805.1:n.1085A>G, NM_001376309.2:c.744A>G, NM_001376309.1:c.744A>G, NM_001354354.2:c.744A>G, NM_001354354.1:c.744A>G, NM_001376314.2:c.744A>G, NM_001376314.1:c.744A>G, XM_024453145.2:c.795A>G, XM_024453145.1:c.795A>G, NM_001376322.2:c.744A>G, NM_001376322.1:c.744A>G, NM_001376317.2:c.891A>G, NM_001376317.1:c.891A>G, NM_001376312.2:c.744A>G, NM_001376312.1:c.744A>G, NM_001376316.2:c.744A>G, NM_001376316.1:c.744A>G, NR_164799.2:n.1203A>G, NR_164799.1:n.1203A>G, NM_001354360.2:c.744A>G, NM_001354360.1:c.744A>G, NR_164803.2:n.1085A>G, NR_164803.1:n.1085A>G, NR_164806.2:n.1049A>G, NR_164806.1:n.1049A>G, NM_001376313.2:c.744A>G, NM_001376313.1:c.744A>G, NR_148872.2:n.977A>G, NR_148872.1:n.977A>G, NR_164801.2:n.968A>G, NR_164801.1:n.968A>G, NM_001376320.2:c.744A>G, NM_001376320.1:c.744A>G, NR_164802.2:n.1085A>G, NR_164802.1:n.1085A>G, NM_001376321.2:c.744A>G, NM_001376321.1:c.744A>G, NM_001376323.2:c.744A>G, NM_001376323.1:c.744A>G, NR_164800.2:n.1028A>G, NR_164800.1:n.1028A>G, NR_164804.2:n.968A>G, NR_164804.1:n.968A>G, NM_001354356.2:c.744A>G, NM_001354356.1:c.744A>G, NM_001284235.2:c.744A>G, NM_001284235.1:c.744A>G, XM_047445844.1:c.918A>G, XM_047445845.1:c.795A>G, XM_047445842.1:c.918A>G, XM_047445843.1:c.918A>G, XM_047445841.1:c.918A>G, XM_047445846.1:c.504A>G, XM_047445847.1:c.228A>G, NM_001376330.1:c.744A>G, NM_001354361.1:c.744A>G, NM_001354358.1:c.744A>G

Select item 14879767742.

rs1487976774 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:144141982 (GRCh38)
2:144899549 (GRCh37)
Canonical SPDI:: NC_000002.12:144141981:T:C
Gene:: GTDC1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.144141982T>C, NC_000002.11:g.144899549T>C, NM_024659.6:c.421A>G, NM_024659.5:c.421A>G, NM_024659.4:c.421A>G, NM_001164629.5:c.421A>G, NM_001164629.4:c.421A>G, NM_001164629.3:c.421A>G, NM_001164629.2:c.421A>G, NM_001006636.5:c.421A>G, NM_001006636.4:c.421A>G, NM_001006636.3:c.421A>G, XM_011511855.4:c.421A>G, XM_011511855.3:c.421A>G, XM_011511855.2:c.421A>G, XM_011511855.1:c.421A>G, XM_011511856.4:c.325A>G, XM_011511856.3:c.325A>G, XM_011511856.2:c.325A>G, XM_011511856.1:c.325A>G, NM_001284233.4:c.421A>G, NM_001284233.3:c.421A>G, NM_001284233.2:c.421A>G, NM_001284233.1:c.421A>G, NM_001354355.3:c.-300A>G, NM_001354355.2:c.-300A>G, NM_001354355.1:c.-300A>G, NM_001284238.3:c.325A>G, NM_001284238.2:c.325A>G, NM_001284238.1:c.325A>G, NM_001354362.3:c.421A>G, NM_001354362.2:c.421A>G, NM_001354362.1:c.421A>G, NM_001284234.3:c.34A>G, NM_001284234.2:c.34A>G, NM_001284234.1:c.34A>G, NR_164809.2:n.1247A>G, NR_164809.1:n.1247A>G, NM_001376315.2:c.421A>G, NM_001376315.1:c.421A>G, NM_001354351.2:c.34A>G, NM_001354351.1:c.34A>G, NM_001376318.2:c.421A>G, NM_001376318.1:c.421A>G, NM_001376324.2:c.421A>G, NM_001376324.1:c.421A>G, NM_001376319.2:c.421A>G, NM_001376319.1:c.421A>G, NM_001376329.2:c.-404A>G, NM_001376329.1:c.-404A>G, NM_001354350.2:c.-307A>G, NM_001354350.1:c.-307A>G, NM_001376310.2:c.421A>G, NM_001376310.1:c.421A>G, NM_001376307.2:c.421A>G, NM_001376307.1:c.421A>G, NM_001376306.2:c.421A>G, NM_001376306.1:c.421A>G, NM_001376311.2:c.421A>G, NM_001376311.1:c.421A>G, NM_001354352.2:c.421A>G, NM_001354352.1:c.421A>G, NM_001376308.2:c.421A>G, NM_001376308.1:c.421A>G, NR_164805.2:n.645A>G, NR_164805.1:n.645A>G, NM_001376309.2:c.421A>G, NM_001376309.1:c.421A>G, NM_001354354.2:c.421A>G, NM_001354354.1:c.421A>G, NM_001376314.2:c.421A>G, NM_001376314.1:c.421A>G, XM_024453145.2:c.325A>G, XM_024453145.1:c.325A>G, NM_001376322.2:c.421A>G, NM_001376322.1:c.421A>G, NM_001376317.2:c.421A>G, NM_001376317.1:c.421A>G, NM_001376312.2:c.421A>G, NM_001376312.1:c.421A>G, NM_001376316.2:c.421A>G, NM_001376316.1:c.421A>G, NR_164799.2:n.763A>G, NR_164799.1:n.763A>G, NM_001354360.2:c.421A>G, NM_001354360.1:c.421A>G, NR_164803.2:n.645A>G, NR_164803.1:n.645A>G, NR_164806.2:n.726A>G, NR_164806.1:n.726A>G, NM_001376313.2:c.421A>G, NM_001376313.1:c.421A>G, NR_148872.2:n.654A>G, NR_148872.1:n.654A>G, NR_164808.2:n.645A>G, NR_164808.1:n.645A>G, NR_164801.2:n.645A>G, NR_164801.1:n.645A>G, NM_001376320.2:c.421A>G, NM_001376320.1:c.421A>G, NR_164802.2:n.645A>G, NR_164802.1:n.645A>G, NM_001376321.2:c.421A>G, NM_001376321.1:c.421A>G, NR_164807.2:n.645A>G, NR_164807.1:n.645A>G, NM_001376323.2:c.421A>G, NM_001376323.1:c.421A>G, NR_164800.2:n.705A>G, NR_164800.1:n.705A>G, NM_001376326.2:c.421A>G, NM_001376326.1:c.421A>G, NM_001376325.2:c.421A>G, NM_001376325.1:c.421A>G, NR_164804.2:n.645A>G, NR_164804.1:n.645A>G, NM_001376327.2:c.421A>G, NM_001376327.1:c.421A>G, NM_001354353.2:c.421A>G, NM_001354353.1:c.421A>G, NM_001376331.2:c.421A>G, NM_001376331.1:c.421A>G, NM_001376332.2:c.421A>G, NM_001376332.1:c.421A>G, NM_001354356.2:c.421A>G, NM_001354356.1:c.421A>G, NM_001284235.2:c.421A>G, NM_001284235.1:c.421A>G, XM_047445844.1:c.448A>G, XM_047445845.1:c.325A>G, XM_047445842.1:c.448A>G, XM_047445843.1:c.448A>G, XM_047445841.1:c.448A>G, XM_047445846.1:c.34A>G, NM_001376330.1:c.421A>G, NM_001354361.1:c.421A>G, NM_001354358.1:c.421A>G, NM_001376328.1:c.421A>G, NP_078935.2:p.Met141Val, NP_001158101.1:p.Met141Val, NP_001006637.1:p.Met141Val, XP_011510157.1:p.Met141Val, XP_011510158.1:p.Met109Val, NP_001271162.1:p.Met141Val, NP_001271167.1:p.Met109Val, NP_001341291.1:p.Met141Val, NP_001271163.1:p.Met12Val, NP_001363244.1:p.Met141Val, NP_001341280.1:p.Met12Val, NP_001363247.1:p.Met141Val, NP_001363253.1:p.Met141Val, NP_001363248.1:p.Met141Val, NP_001363239.1:p.Met141Val, NP_001363236.1:p.Met141Val, NP_001363235.1:p.Met141Val, NP_001363240.1:p.Met141Val, NP_001341281.1:p.Met141Val, NP_001363237.1:p.Met141Val, NP_001363238.1:p.Met141Val, NP_001341283.1:p.Met141Val, NP_001363243.1:p.Met141Val, XP_024308913.1:p.Met109Val, NP_001363251.1:p.Met141Val, NP_001363246.1:p.Met141Val, NP_001363241.1:p.Met141Val, NP_001363245.1:p.Met141Val, NP_001341289.1:p.Met141Val, NP_001363242.1:p.Met141Val, NP_001363249.1:p.Met141Val, NP_001363250.1:p.Met141Val, NP_001363252.1:p.Met141Val, NP_001363255.1:p.Met141Val, NP_001363254.1:p.Met141Val, NP_001363256.1:p.Met141Val, NP_001341282.1:p.Met141Val, NP_001363260.1:p.Met141Val, NP_001363261.1:p.Met141Val, NP_001341285.1:p.Met141Val, NP_001271164.1:p.Met141Val, XP_047301800.1:p.Met150Val, XP_047301801.1:p.Met109Val, XP_047301798.1:p.Met150Val, XP_047301799.1:p.Met150Val, XP_047301797.1:p.Met150Val, XP_047301802.1:p.Met12Val, NP_001363259.1:p.Met141Val, NP_001341290.1:p.Met141Val, NP_001341287.1:p.Met141Val, NP_001363257.1:p.Met141Val

Select item 14878154083.

rs1487815408 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:144007473 (GRCh38)
2:144765040 (GRCh37)
Canonical SPDI:: NC_000002.12:144007472:C:G
Gene:: GTDC1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000031/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.144007473C>G, NC_000002.11:g.144765040C>G, NM_024659.6:c.584G>C, NM_024659.5:c.584G>C, NM_024659.4:c.584G>C, NM_001164629.5:c.584G>C, NM_001164629.4:c.584G>C, NM_001164629.3:c.584G>C, NM_001164629.2:c.584G>C, NM_001006636.5:c.584G>C, NM_001006636.4:c.584G>C, NM_001006636.3:c.584G>C, XM_011511855.4:c.731G>C, XM_011511855.3:c.731G>C, XM_011511855.2:c.731G>C, XM_011511855.1:c.731G>C, XM_011511856.4:c.635G>C, XM_011511856.3:c.635G>C, XM_011511856.2:c.635G>C, XM_011511856.1:c.635G>C, NM_001284233.4:c.584G>C, NM_001284233.3:c.584G>C, NM_001284233.2:c.584G>C, NM_001284233.1:c.584G>C, NM_001354355.3:c.128G>C, NM_001354355.2:c.128G>C, NM_001354355.1:c.128G>C, NM_001284238.3:c.488G>C, NM_001284238.2:c.488G>C, NM_001284238.1:c.488G>C, NM_001284234.3:c.197G>C, NM_001284234.2:c.197G>C, NM_001284234.1:c.197G>C, NR_164809.2:n.1557G>C, NR_164809.1:n.1557G>C, NM_001376315.2:c.584G>C, NM_001376315.1:c.584G>C, NM_001354351.2:c.197G>C, NM_001354351.1:c.197G>C, NM_001376318.2:c.584G>C, NM_001376318.1:c.584G>C, NM_001376324.2:c.584G>C, NM_001376324.1:c.584G>C, NM_001376319.2:c.584G>C, NM_001376319.1:c.584G>C, NM_001376329.2:c.128G>C, NM_001376329.1:c.128G>C, NM_001354350.2:c.128G>C, NM_001354350.1:c.128G>C, NM_001376310.2:c.584G>C, NM_001376310.1:c.584G>C, NM_001376307.2:c.584G>C, NM_001376307.1:c.584G>C, NM_001376306.2:c.731G>C, NM_001376306.1:c.731G>C, NM_001376311.2:c.584G>C, NM_001376311.1:c.584G>C, NM_001376308.2:c.584G>C, NM_001376308.1:c.584G>C, NR_164805.2:n.925G>C, NR_164805.1:n.925G>C, NM_001376309.2:c.584G>C, NM_001376309.1:c.584G>C, NM_001354354.2:c.584G>C, NM_001354354.1:c.584G>C, NM_001376314.2:c.584G>C, NM_001376314.1:c.584G>C, XM_024453145.2:c.635G>C, XM_024453145.1:c.635G>C, NM_001376322.2:c.584G>C, NM_001376322.1:c.584G>C, NM_001376317.2:c.731G>C, NM_001376317.1:c.731G>C, NM_001376312.2:c.584G>C, NM_001376312.1:c.584G>C, NM_001376316.2:c.584G>C, NM_001376316.1:c.584G>C, NR_164799.2:n.1043G>C, NR_164799.1:n.1043G>C, NM_001354360.2:c.584G>C, NM_001354360.1:c.584G>C, NR_164803.2:n.925G>C, NR_164803.1:n.925G>C, NR_164806.2:n.889G>C, NR_164806.1:n.889G>C, NM_001376313.2:c.584G>C, NM_001376313.1:c.584G>C, NR_148872.2:n.817G>C, NR_148872.1:n.817G>C, NR_164801.2:n.808G>C, NR_164801.1:n.808G>C, NM_001376320.2:c.584G>C, NM_001376320.1:c.584G>C, NR_164802.2:n.925G>C, NR_164802.1:n.925G>C, NM_001376321.2:c.584G>C, NM_001376321.1:c.584G>C, NM_001376323.2:c.584G>C, NM_001376323.1:c.584G>C, NR_164800.2:n.868G>C, NR_164800.1:n.868G>C, NR_164804.2:n.808G>C, NR_164804.1:n.808G>C, NM_001354356.2:c.584G>C, NM_001354356.1:c.584G>C, NM_001284235.2:c.584G>C, NM_001284235.1:c.584G>C, XM_047445844.1:c.758G>C, XM_047445845.1:c.635G>C, XM_047445842.1:c.758G>C, XM_047445843.1:c.758G>C, XM_047445841.1:c.758G>C, XM_047445846.1:c.344G>C, XM_047445847.1:c.68G>C, NM_001376330.1:c.584G>C, NM_001354361.1:c.584G>C, NM_001354358.1:c.584G>C, NP_078935.2:p.Gly195Ala, NP_001158101.1:p.Gly195Ala, NP_001006637.1:p.Gly195Ala, XP_011510157.1:p.Gly244Ala, XP_011510158.1:p.Gly212Ala, NP_001271162.1:p.Gly195Ala, NP_001341284.1:p.Gly43Ala, NP_001271167.1:p.Gly163Ala, NP_001271163.1:p.Gly66Ala, NP_001363244.1:p.Gly195Ala, NP_001341280.1:p.Gly66Ala, NP_001363247.1:p.Gly195Ala, NP_001363253.1:p.Gly195Ala, NP_001363248.1:p.Gly195Ala, NP_001363258.1:p.Gly43Ala, NP_001341279.1:p.Gly43Ala, NP_001363239.1:p.Gly195Ala, NP_001363236.1:p.Gly195Ala, NP_001363235.1:p.Gly244Ala, NP_001363240.1:p.Gly195Ala, NP_001363237.1:p.Gly195Ala, NP_001363238.1:p.Gly195Ala, NP_001341283.1:p.Gly195Ala, NP_001363243.1:p.Gly195Ala, XP_024308913.1:p.Gly212Ala, NP_001363251.1:p.Gly195Ala, NP_001363246.1:p.Gly244Ala, NP_001363241.1:p.Gly195Ala, NP_001363245.1:p.Gly195Ala, NP_001341289.1:p.Gly195Ala, NP_001363242.1:p.Gly195Ala, NP_001363249.1:p.Gly195Ala, NP_001363250.1:p.Gly195Ala, NP_001363252.1:p.Gly195Ala, NP_001341285.1:p.Gly195Ala, NP_001271164.1:p.Gly195Ala, XP_047301800.1:p.Gly253Ala, XP_047301801.1:p.Gly212Ala, XP_047301798.1:p.Gly253Ala, XP_047301799.1:p.Gly253Ala, XP_047301797.1:p.Gly253Ala, XP_047301802.1:p.Gly115Ala, XP_047301803.1:p.Gly23Ala, NP_001363259.1:p.Gly195Ala, NP_001341290.1:p.Gly195Ala, NP_001341287.1:p.Gly195Ala

Select item 14790799394.

rs1479079939 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:143970669 (GRCh38)
2:144728236 (GRCh37)
Canonical SPDI:: NC_000002.12:143970668:G:C
Gene:: GTDC1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000002.12:g.143970669G>C, NC_000002.11:g.144728236G>C, NM_001164629.5:c.969C>G, NM_001164629.4:c.969C>G, NM_001164629.3:c.969C>G, NM_001164629.2:c.969C>G, NM_001006636.5:c.969C>G, NM_001006636.4:c.969C>G, NM_001006636.3:c.969C>G, XM_011511855.4:c.1116C>G, XM_011511855.3:c.1116C>G, XM_011511855.2:c.1116C>G, XM_011511855.1:c.1116C>G, XM_011511856.4:c.1020C>G, XM_011511856.3:c.1020C>G, XM_011511856.2:c.1020C>G, XM_011511856.1:c.1020C>G, NM_001284233.4:c.969C>G, NM_001284233.3:c.969C>G, NM_001284233.2:c.969C>G, NM_001284233.1:c.969C>G, NM_001354355.3:c.513C>G, NM_001354355.2:c.513C>G, NM_001354355.1:c.513C>G, NM_001284238.3:c.873C>G, NM_001284238.2:c.873C>G, NM_001284238.1:c.873C>G, NM_001354362.3:c.615C>G, NM_001354362.2:c.615C>G, NM_001354362.1:c.615C>G, NM_001284234.3:c.582C>G, NM_001284234.2:c.582C>G, NM_001284234.1:c.582C>G, NR_164809.2:n.1942C>G, NR_164809.1:n.1942C>G, NM_001376315.2:c.969C>G, NM_001376315.1:c.969C>G, NM_001354351.2:c.582C>G, NM_001354351.1:c.582C>G, NM_001376318.2:c.969C>G, NM_001376318.1:c.969C>G, NM_001376319.2:c.969C>G, NM_001376319.1:c.969C>G, NM_001376329.2:c.513C>G, NM_001376329.1:c.513C>G, NM_001354350.2:c.513C>G, NM_001354350.1:c.513C>G, NM_001376310.2:c.969C>G, NM_001376310.1:c.969C>G, NM_001376307.2:c.969C>G, NM_001376307.1:c.969C>G, NM_001376306.2:c.1116C>G, NM_001376306.1:c.1116C>G, NM_001376311.2:c.969C>G, NM_001376311.1:c.969C>G, NM_001354352.2:c.615C>G, NM_001354352.1:c.615C>G, NM_001376308.2:c.969C>G, NM_001376308.1:c.969C>G, NR_164805.2:n.1310C>G, NR_164805.1:n.1310C>G, NM_001376309.2:c.969C>G, NM_001376309.1:c.969C>G, NM_001354354.2:c.969C>G, NM_001354354.1:c.969C>G, NM_001376314.2:c.969C>G, NM_001376314.1:c.969C>G, XM_024453145.2:c.1020C>G, XM_024453145.1:c.1020C>G, NM_001376317.2:c.1116C>G, NM_001376317.1:c.1116C>G, NM_001376312.2:c.969C>G, NM_001376312.1:c.969C>G, NM_001376316.2:c.966C>G, NM_001376316.1:c.966C>G, NM_001354360.2:c.969C>G, NM_001354360.1:c.969C>G, NR_164803.2:n.1310C>G, NR_164803.1:n.1310C>G, NM_001376313.2:c.969C>G, NM_001376313.1:c.969C>G, NR_164808.2:n.983C>G, NR_164808.1:n.983C>G, NR_164807.2:n.956C>G, NR_164807.1:n.956C>G, NM_001376326.2:c.615C>G, NM_001376326.1:c.615C>G, NM_001376325.2:c.615C>G, NM_001376325.1:c.615C>G, NM_001376327.2:c.615C>G, NM_001376327.1:c.615C>G, NM_001354353.2:c.615C>G, NM_001354353.1:c.615C>G, NM_001376331.2:c.615C>G, NM_001376331.1:c.615C>G, XM_047445844.1:c.1143C>G, XM_047445845.1:c.1020C>G, XM_047445842.1:c.1143C>G, XM_047445843.1:c.1143C>G, XM_047445841.1:c.1143C>G, XM_047445846.1:c.729C>G, XM_047445847.1:c.453C>G, NM_001354361.1:c.969C>G, NM_001376328.1:c.615C>G

Select item 14788737815.

rs1478873781 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 2:144145662 (GRCh38)
2:144903229 (GRCh37)
Canonical SPDI:: NC_000002.12:144145661:A:C
Gene:: GTDC1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,missense_variant,5_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.144145662A>C, NC_000002.11:g.144903229A>C, NM_024659.6:c.257T>G, NM_024659.5:c.257T>G, NM_024659.4:c.257T>G, NM_001164629.5:c.257T>G, NM_001164629.4:c.257T>G, NM_001164629.3:c.257T>G, NM_001164629.2:c.257T>G, NM_001006636.5:c.257T>G, NM_001006636.4:c.257T>G, NM_001006636.3:c.257T>G, XM_011511855.4:c.257T>G, XM_011511855.3:c.257T>G, XM_011511855.2:c.257T>G, XM_011511855.1:c.257T>G, XM_011511856.4:c.161T>G, XM_011511856.3:c.161T>G, XM_011511856.2:c.161T>G, XM_011511856.1:c.161T>G, NM_001284233.4:c.257T>G, NM_001284233.3:c.257T>G, NM_001284233.2:c.257T>G, NM_001284233.1:c.257T>G, NM_001354355.3:c.-464T>G, NM_001354355.2:c.-464T>G, NM_001354355.1:c.-464T>G, NM_001284238.3:c.161T>G, NM_001284238.2:c.161T>G, NM_001284238.1:c.161T>G, NM_001354362.3:c.257T>G, NM_001354362.2:c.257T>G, NM_001354362.1:c.257T>G, NM_001284234.3:c.-131T>G, NM_001284234.2:c.-131T>G, NM_001284234.1:c.-131T>G, NR_164809.2:n.1083T>G, NR_164809.1:n.1083T>G, NM_001376315.2:c.257T>G, NM_001376315.1:c.257T>G, NM_001354351.2:c.-131T>G, NM_001354351.1:c.-131T>G, NM_001376318.2:c.257T>G, NM_001376318.1:c.257T>G, NM_001376324.2:c.257T>G, NM_001376324.1:c.257T>G, NM_001376319.2:c.257T>G, NM_001376319.1:c.257T>G, NM_001376329.2:c.-568T>G, NM_001376329.1:c.-568T>G, NM_001354350.2:c.-471T>G, NM_001354350.1:c.-471T>G, NM_001376310.2:c.257T>G, NM_001376310.1:c.257T>G, NM_001376307.2:c.257T>G, NM_001376307.1:c.257T>G, NM_001376306.2:c.257T>G, NM_001376306.1:c.257T>G, NM_001376311.2:c.257T>G, NM_001376311.1:c.257T>G, NM_001354352.2:c.257T>G, NM_001354352.1:c.257T>G, NM_001376308.2:c.257T>G, NM_001376308.1:c.257T>G, NR_164805.2:n.481T>G, NR_164805.1:n.481T>G, NM_001376309.2:c.257T>G, NM_001376309.1:c.257T>G, NM_001354354.2:c.257T>G, NM_001354354.1:c.257T>G, NM_001376314.2:c.257T>G, NM_001376314.1:c.257T>G, XM_024453145.2:c.161T>G, XM_024453145.1:c.161T>G, NM_001376322.2:c.257T>G, NM_001376322.1:c.257T>G, NM_001376317.2:c.257T>G, NM_001376317.1:c.257T>G, NM_001376312.2:c.257T>G, NM_001376312.1:c.257T>G, NM_001376316.2:c.257T>G, NM_001376316.1:c.257T>G, NR_164799.2:n.599T>G, NR_164799.1:n.599T>G, NM_001354360.2:c.257T>G, NM_001354360.1:c.257T>G, NR_164803.2:n.481T>G, NR_164803.1:n.481T>G, NR_164806.2:n.562T>G, NR_164806.1:n.562T>G, NM_001376313.2:c.257T>G, NM_001376313.1:c.257T>G, NR_148872.2:n.490T>G, NR_148872.1:n.490T>G, NR_164808.2:n.481T>G, NR_164808.1:n.481T>G, NR_164801.2:n.481T>G, NR_164801.1:n.481T>G, NM_001376320.2:c.257T>G, NM_001376320.1:c.257T>G, NR_164802.2:n.481T>G, NR_164802.1:n.481T>G, NM_001376321.2:c.257T>G, NM_001376321.1:c.257T>G, NR_164807.2:n.481T>G, NR_164807.1:n.481T>G, NM_001376323.2:c.257T>G, NM_001376323.1:c.257T>G, NR_164800.2:n.537T>G, NR_164800.1:n.537T>G, NM_001376326.2:c.257T>G, NM_001376326.1:c.257T>G, NM_001376325.2:c.257T>G, NM_001376325.1:c.257T>G, NR_164804.2:n.481T>G, NR_164804.1:n.481T>G, NM_001376327.2:c.257T>G, NM_001376327.1:c.257T>G, NM_001354353.2:c.257T>G, NM_001354353.1:c.257T>G, NM_001376331.2:c.257T>G, NM_001376331.1:c.257T>G, NM_001376332.2:c.257T>G, NM_001376332.1:c.257T>G, NM_001354356.2:c.257T>G, NM_001354356.1:c.257T>G, NM_001284235.2:c.257T>G, NM_001284235.1:c.257T>G, XM_047445844.1:c.284T>G, XM_047445845.1:c.161T>G, XM_047445842.1:c.284T>G, XM_047445843.1:c.284T>G, XM_047445841.1:c.284T>G, XM_047445846.1:c.-131T>G, NM_001376330.1:c.257T>G, NM_001354361.1:c.257T>G, NM_001354358.1:c.257T>G, NM_001376328.1:c.257T>G, NP_078935.2:p.Ile86Ser, NP_001158101.1:p.Ile86Ser, NP_001006637.1:p.Ile86Ser, XP_011510157.1:p.Ile86Ser, XP_011510158.1:p.Ile54Ser, NP_001271162.1:p.Ile86Ser, NP_001271167.1:p.Ile54Ser, NP_001341291.1:p.Ile86Ser, NP_001363244.1:p.Ile86Ser, NP_001363247.1:p.Ile86Ser, NP_001363253.1:p.Ile86Ser, NP_001363248.1:p.Ile86Ser, NP_001363239.1:p.Ile86Ser, NP_001363236.1:p.Ile86Ser, NP_001363235.1:p.Ile86Ser, NP_001363240.1:p.Ile86Ser, NP_001341281.1:p.Ile86Ser, NP_001363237.1:p.Ile86Ser, NP_001363238.1:p.Ile86Ser, NP_001341283.1:p.Ile86Ser, NP_001363243.1:p.Ile86Ser, XP_024308913.1:p.Ile54Ser, NP_001363251.1:p.Ile86Ser, NP_001363246.1:p.Ile86Ser, NP_001363241.1:p.Ile86Ser, NP_001363245.1:p.Ile86Ser, NP_001341289.1:p.Ile86Ser, NP_001363242.1:p.Ile86Ser, NP_001363249.1:p.Ile86Ser, NP_001363250.1:p.Ile86Ser, NP_001363252.1:p.Ile86Ser, NP_001363255.1:p.Ile86Ser, NP_001363254.1:p.Ile86Ser, NP_001363256.1:p.Ile86Ser, NP_001341282.1:p.Ile86Ser, NP_001363260.1:p.Ile86Ser, NP_001363261.1:p.Ile86Ser, NP_001341285.1:p.Ile86Ser, NP_001271164.1:p.Ile86Ser, XP_047301800.1:p.Ile95Ser, XP_047301801.1:p.Ile54Ser, XP_047301798.1:p.Ile95Ser, XP_047301799.1:p.Ile95Ser, XP_047301797.1:p.Ile95Ser, NP_001363259.1:p.Ile86Ser, NP_001341290.1:p.Ile86Ser, NP_001341287.1:p.Ile86Ser, NP_001363257.1:p.Ile86Ser

Select item 14754218226.

rs1475421822 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C,G [Show Flanks]
Chromosome:: 2:143957232 (GRCh38)
2:144714799 (GRCh37)
Canonical SPDI:: NC_000002.12:143957231:T:A,NC_000002.12:143957231:T:C,NC_000002.12:143957231:T:G
Gene:: GTDC1 (Varview), LOC101928386 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.143957232T>A, NC_000002.12:g.143957232T>C, NC_000002.12:g.143957232T>G, NC_000002.11:g.144714799T>A, NC_000002.11:g.144714799T>C, NC_000002.11:g.144714799T>G, NM_001164629.5:c.1093A>T, NM_001164629.5:c.1093A>G, NM_001164629.5:c.1093A>C, NM_001164629.4:c.1093A>T, NM_001164629.4:c.1093A>G, NM_001164629.4:c.1093A>C, NM_001164629.3:c.1093A>T, NM_001164629.3:c.1093A>G, NM_001164629.3:c.1093A>C, NM_001164629.2:c.1093A>T, NM_001164629.2:c.1093A>G, NM_001164629.2:c.1093A>C, NM_001006636.5:c.1093A>T, NM_001006636.5:c.1093A>G, NM_001006636.5:c.1093A>C, NM_001006636.4:c.1093A>T, NM_001006636.4:c.1093A>G, NM_001006636.4:c.1093A>C, NM_001006636.3:c.1093A>T, NM_001006636.3:c.1093A>G, NM_001006636.3:c.1093A>C, XM_011511855.4:c.1240A>T, XM_011511855.4:c.1240A>G, XM_011511855.4:c.1240A>C, XM_011511855.3:c.1240A>T, XM_011511855.3:c.1240A>G, XM_011511855.3:c.1240A>C, XM_011511855.2:c.1240A>T, XM_011511855.2:c.1240A>G, XM_011511855.2:c.1240A>C, XM_011511855.1:c.1240A>T, XM_011511855.1:c.1240A>G, XM_011511855.1:c.1240A>C, XM_011511856.4:c.1144A>T, XM_011511856.4:c.1144A>G, XM_011511856.4:c.1144A>C, XM_011511856.3:c.1144A>T, XM_011511856.3:c.1144A>G, XM_011511856.3:c.1144A>C, XM_011511856.2:c.1144A>T, XM_011511856.2:c.1144A>G, XM_011511856.2:c.1144A>C, XM_011511856.1:c.1144A>T, XM_011511856.1:c.1144A>G, XM_011511856.1:c.1144A>C, NM_001354355.3:c.637A>T, NM_001354355.3:c.637A>G, NM_001354355.3:c.637A>C, NM_001354355.2:c.637A>T, NM_001354355.2:c.637A>G, NM_001354355.2:c.637A>C, NM_001354355.1:c.637A>T, NM_001354355.1:c.637A>G, NM_001354355.1:c.637A>C, NM_001284238.3:c.997A>T, NM_001284238.3:c.997A>G, NM_001284238.3:c.997A>C, NM_001284238.2:c.997A>T, NM_001284238.2:c.997A>G, NM_001284238.2:c.997A>C, NM_001284238.1:c.997A>T, NM_001284238.1:c.997A>G, NM_001284238.1:c.997A>C, NM_001354362.3:c.739A>T, NM_001354362.3:c.739A>G, NM_001354362.3:c.739A>C, NM_001354362.2:c.739A>T, NM_001354362.2:c.739A>G, NM_001354362.2:c.739A>C, NM_001354362.1:c.739A>T, NM_001354362.1:c.739A>G, NM_001354362.1:c.739A>C, NM_001284234.3:c.706A>T, NM_001284234.3:c.706A>G, NM_001284234.3:c.706A>C, NM_001284234.2:c.706A>T, NM_001284234.2:c.706A>G, NM_001284234.2:c.706A>C, NM_001284234.1:c.706A>T, NM_001284234.1:c.706A>G, NM_001284234.1:c.706A>C, NR_164809.2:n.2066A>T, NR_164809.2:n.2066A>G, NR_164809.2:n.2066A>C, NR_164809.1:n.2066A>T, NR_164809.1:n.2066A>G, NR_164809.1:n.2066A>C, NM_001376315.2:c.1093A>T, NM_001376315.2:c.1093A>G, NM_001376315.2:c.1093A>C, NM_001376315.1:c.1093A>T, NM_001376315.1:c.1093A>G, NM_001376315.1:c.1093A>C, NM_001354351.2:c.706A>T, NM_001354351.2:c.706A>G, NM_001354351.2:c.706A>C, NM_001354351.1:c.706A>T, NM_001354351.1:c.706A>G, NM_001354351.1:c.706A>C, NM_001376329.2:c.637A>T, NM_001376329.2:c.637A>G, NM_001376329.2:c.637A>C, NM_001376329.1:c.637A>T, NM_001376329.1:c.637A>G, NM_001376329.1:c.637A>C, NM_001354350.2:c.637A>T, NM_001354350.2:c.637A>G, NM_001354350.2:c.637A>C, NM_001354350.1:c.637A>T, NM_001354350.1:c.637A>G, NM_001354350.1:c.637A>C, NM_001376310.2:c.1093A>T, NM_001376310.2:c.1093A>G, NM_001376310.2:c.1093A>C, NM_001376310.1:c.1093A>T, NM_001376310.1:c.1093A>G, NM_001376310.1:c.1093A>C, NM_001376307.2:c.1093A>T, NM_001376307.2:c.1093A>G, NM_001376307.2:c.1093A>C, NM_001376307.1:c.1093A>T, NM_001376307.1:c.1093A>G, NM_001376307.1:c.1093A>C, NM_001376306.2:c.1240A>T, NM_001376306.2:c.1240A>G, NM_001376306.2:c.1240A>C, NM_001376306.1:c.1240A>T, NM_001376306.1:c.1240A>G, NM_001376306.1:c.1240A>C, NM_001376311.2:c.1093A>T, NM_001376311.2:c.1093A>G, NM_001376311.2:c.1093A>C, NM_001376311.1:c.1093A>T, NM_001376311.1:c.1093A>G, NM_001376311.1:c.1093A>C, NM_001354352.2:c.739A>T, NM_001354352.2:c.739A>G, NM_001354352.2:c.739A>C, NM_001354352.1:c.739A>T, NM_001354352.1:c.739A>G, NM_001354352.1:c.739A>C, NM_001376308.2:c.1093A>T, NM_001376308.2:c.1093A>G, NM_001376308.2:c.1093A>C, NM_001376308.1:c.1093A>T, NM_001376308.1:c.1093A>G, NM_001376308.1:c.1093A>C, NR_164805.2:n.1434A>T, NR_164805.2:n.1434A>G, NR_164805.2:n.1434A>C, NR_164805.1:n.1434A>T, NR_164805.1:n.1434A>G, NR_164805.1:n.1434A>C, NM_001376309.2:c.1093A>T, NM_001376309.2:c.1093A>G, NM_001376309.2:c.1093A>C, NM_001376309.1:c.1093A>T, NM_001376309.1:c.1093A>G, NM_001376309.1:c.1093A>C, NM_001354354.2:c.1093A>T, NM_001354354.2:c.1093A>G, NM_001354354.2:c.1093A>C, NM_001354354.1:c.1093A>T, NM_001354354.1:c.1093A>G, NM_001354354.1:c.1093A>C, NM_001376314.2:c.1093A>T, NM_001376314.2:c.1093A>G, NM_001376314.2:c.1093A>C, NM_001376314.1:c.1093A>T, NM_001376314.1:c.1093A>G, NM_001376314.1:c.1093A>C, XM_024453145.2:c.1144A>T, XM_024453145.2:c.1144A>G, XM_024453145.2:c.1144A>C, XM_024453145.1:c.1144A>T, XM_024453145.1:c.1144A>G, XM_024453145.1:c.1144A>C, NM_001376312.2:c.1093A>T, NM_001376312.2:c.1093A>G, NM_001376312.2:c.1093A>C, NM_001376312.1:c.1093A>T, NM_001376312.1:c.1093A>G, NM_001376312.1:c.1093A>C, NM_001376316.2:c.1090A>T, NM_001376316.2:c.1090A>G, NM_001376316.2:c.1090A>C, NM_001376316.1:c.1090A>T, NM_001376316.1:c.1090A>G, NM_001376316.1:c.1090A>C, NR_164806.2:n.1288A>T, NR_164806.2:n.1288A>G, NR_164806.2:n.1288A>C, NR_164806.1:n.1288A>T, NR_164806.1:n.1288A>G, NR_164806.1:n.1288A>C, NM_001376313.2:c.1093A>T, NM_001376313.2:c.1093A>G, NM_001376313.2:c.1093A>C, NM_001376313.1:c.1093A>T, NM_001376313.1:c.1093A>G, NM_001376313.1:c.1093A>C, NR_148872.2:n.1216A>T, NR_148872.2:n.1216A>G, NR_148872.2:n.1216A>C, NR_148872.1:n.1216A>T, NR_148872.1:n.1216A>G, NR_148872.1:n.1216A>C, NR_164808.2:n.1213A>T, NR_164808.2:n.1213A>G, NR_164808.2:n.1213A>C, NR_164808.1:n.1213A>T, NR_164808.1:n.1213A>G, NR_164808.1:n.1213A>C, NR_164801.2:n.1207A>T, NR_164801.2:n.1207A>G, NR_164801.2:n.1207A>C, NR_164801.1:n.1207A>T, NR_164801.1:n.1207A>G, NR_164801.1:n.1207A>C, NR_164807.2:n.1080A>T, NR_164807.2:n.1080A>G, NR_164807.2:n.1080A>C, NR_164807.1:n.1080A>T, NR_164807.1:n.1080A>G, NR_164807.1:n.1080A>C, NM_001376326.2:c.739A>T, NM_001376326.2:c.739A>G, NM_001376326.2:c.739A>C, NM_001376326.1:c.739A>T, NM_001376326.1:c.739A>G, NM_001376326.1:c.739A>C, NM_001376325.2:c.739A>T, NM_001376325.2:c.739A>G, NM_001376325.2:c.739A>C, NM_001376325.1:c.739A>T, NM_001376325.1:c.739A>G, NM_001376325.1:c.739A>C, NM_001376327.2:c.739A>T, NM_001376327.2:c.739A>G, NM_001376327.2:c.739A>C, NM_001376327.1:c.739A>T, NM_001376327.1:c.739A>G, NM_001376327.1:c.739A>C, XM_047445844.1:c.1267A>T, XM_047445844.1:c.1267A>G, XM_047445844.1:c.1267A>C, XM_047445845.1:c.1144A>T, XM_047445845.1:c.1144A>G, XM_047445845.1:c.1144A>C, XM_047445842.1:c.1267A>T, XM_047445842.1:c.1267A>G, XM_047445842.1:c.1267A>C, XM_047445843.1:c.1267A>T, XM_047445843.1:c.1267A>G, XM_047445843.1:c.1267A>C, XM_047445841.1:c.1267A>T, XM_047445841.1:c.1267A>G, XM_047445841.1:c.1267A>C, XM_047445846.1:c.853A>T, XM_047445846.1:c.853A>G, XM_047445846.1:c.853A>C, XM_047445847.1:c.577A>T, XM_047445847.1:c.577A>G, XM_047445847.1:c.577A>C, NM_001354361.1:c.1093A>T, NM_001354361.1:c.1093A>G, NM_001354361.1:c.1093A>C, NM_001376328.1:c.739A>T, NM_001376328.1:c.739A>G, NM_001376328.1:c.739A>C, NP_001158101.1:p.Ile365Phe, NP_001158101.1:p.Ile365Val, NP_001158101.1:p.Ile365Leu, NP_001006637.1:p.Ile365Phe, NP_001006637.1:p.Ile365Val, NP_001006637.1:p.Ile365Leu, XP_011510157.1:p.Ile414Phe, XP_011510157.1:p.Ile414Val, XP_011510157.1:p.Ile414Leu, XP_011510158.1:p.Ile382Phe, XP_011510158.1:p.Ile382Val, XP_011510158.1:p.Ile382Leu, NP_001341284.1:p.Ile213Phe, NP_001341284.1:p.Ile213Val, NP_001341284.1:p.Ile213Leu, NP_001271167.1:p.Ile333Phe, NP_001271167.1:p.Ile333Val, NP_001271167.1:p.Ile333Leu, NP_001341291.1:p.Ile247Phe, NP_001341291.1:p.Ile247Val, NP_001341291.1:p.Ile247Leu, NP_001271163.1:p.Ile236Phe, NP_001271163.1:p.Ile236Val, NP_001271163.1:p.Ile236Leu, NP_001363244.1:p.Ile365Phe, NP_001363244.1:p.Ile365Val, NP_001363244.1:p.Ile365Leu, NP_001341280.1:p.Ile236Phe, NP_001341280.1:p.Ile236Val, NP_001341280.1:p.Ile236Leu, NP_001363258.1:p.Ile213Phe, NP_001363258.1:p.Ile213Val, NP_001363258.1:p.Ile213Leu, NP_001341279.1:p.Ile213Phe, NP_001341279.1:p.Ile213Val, NP_001341279.1:p.Ile213Leu, NP_001363239.1:p.Ile365Phe, NP_001363239.1:p.Ile365Val, NP_001363239.1:p.Ile365Leu, NP_001363236.1:p.Ile365Phe, NP_001363236.1:p.Ile365Val, NP_001363236.1:p.Ile365Leu, NP_001363235.1:p.Ile414Phe, NP_001363235.1:p.Ile414Val, NP_001363235.1:p.Ile414Leu, NP_001363240.1:p.Ile365Phe, NP_001363240.1:p.Ile365Val, NP_001363240.1:p.Ile365Leu, NP_001341281.1:p.Ile247Phe, NP_001341281.1:p.Ile247Val, NP_001341281.1:p.Ile247Leu, NP_001363237.1:p.Ile365Phe, NP_001363237.1:p.Ile365Val, NP_001363237.1:p.Ile365Leu, NP_001363238.1:p.Ile365Phe, NP_001363238.1:p.Ile365Val, NP_001363238.1:p.Ile365Leu, NP_001341283.1:p.Ile365Phe, NP_001341283.1:p.Ile365Val, NP_001341283.1:p.Ile365Leu, NP_001363243.1:p.Ile365Phe, NP_001363243.1:p.Ile365Val, NP_001363243.1:p.Ile365Leu, XP_024308913.1:p.Ile382Phe, XP_024308913.1:p.Ile382Val, XP_024308913.1:p.Ile382Leu, NP_001363241.1:p.Ile365Phe, NP_001363241.1:p.Ile365Val, NP_001363241.1:p.Ile365Leu, NP_001363245.1:p.Ile364Phe, NP_001363245.1:p.Ile364Val, NP_001363245.1:p.Ile364Leu, NP_001363242.1:p.Ile365Phe, NP_001363242.1:p.Ile365Val, NP_001363242.1:p.Ile365Leu, NP_001363255.1:p.Ile247Phe, NP_001363255.1:p.Ile247Val, NP_001363255.1:p.Ile247Leu, NP_001363254.1:p.Ile247Phe, NP_001363254.1:p.Ile247Val, NP_001363254.1:p.Ile247Leu, NP_001363256.1:p.Ile247Phe, NP_001363256.1:p.Ile247Val, NP_001363256.1:p.Ile247Leu, XP_047301800.1:p.Ile423Phe, XP_047301800.1:p.Ile423Val, XP_047301800.1:p.Ile423Leu, XP_047301801.1:p.Ile382Phe, XP_047301801.1:p.Ile382Val, XP_047301801.1:p.Ile382Leu, XP_047301798.1:p.Ile423Phe, XP_047301798.1:p.Ile423Val, XP_047301798.1:p.Ile423Leu, XP_047301799.1:p.Ile423Phe, XP_047301799.1:p.Ile423Val, XP_047301799.1:p.Ile423Leu, XP_047301797.1:p.Ile423Phe, XP_047301797.1:p.Ile423Val, XP_047301797.1:p.Ile423Leu, XP_047301802.1:p.Ile285Phe, XP_047301802.1:p.Ile285Val, XP_047301802.1:p.Ile285Leu, XP_047301803.1:p.Ile193Phe, XP_047301803.1:p.Ile193Val, XP_047301803.1:p.Ile193Leu, NP_001341290.1:p.Ile365Phe, NP_001341290.1:p.Ile365Val, NP_001341290.1:p.Ile365Leu, NP_001363257.1:p.Ile247Phe, NP_001363257.1:p.Ile247Val, NP_001363257.1:p.Ile247Leu

Select item 14738876347.

rs1473887634 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:144208759 (GRCh38)
2:144966326 (GRCh37)
Canonical SPDI:: NC_000002.12:144208758:G:A
Gene:: GTDC1 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.144208759G>A, NC_000002.11:g.144966326G>A, NM_024659.6:c.23C>T, NM_024659.5:c.23C>T, NM_024659.4:c.23C>T, NM_001164629.5:c.23C>T, NM_001164629.4:c.23C>T, NM_001164629.3:c.23C>T, NM_001164629.2:c.23C>T, NM_001006636.5:c.23C>T, NM_001006636.4:c.23C>T, NM_001006636.3:c.23C>T, XM_011511855.4:c.23C>T, XM_011511855.3:c.23C>T, XM_011511855.2:c.23C>T, XM_011511855.1:c.23C>T, NM_001284233.4:c.23C>T, NM_001284233.3:c.23C>T, NM_001284233.2:c.23C>T, NM_001284233.1:c.23C>T, NM_001354355.3:c.-698C>T, NM_001354355.2:c.-698C>T, NM_001354355.1:c.-698C>T, NM_001284238.3:c.-306C>T, NM_001284238.2:c.-306C>T, NM_001284238.1:c.-306C>T, NM_001354362.3:c.23C>T, NM_001354362.2:c.23C>T, NM_001354362.1:c.23C>T, NR_164809.2:n.849C>T, NR_164809.1:n.849C>T, NM_001376315.2:c.23C>T, NM_001376315.1:c.23C>T, NM_001354351.2:c.-491C>T, NM_001354351.1:c.-491C>T, NM_001376318.2:c.23C>T, NM_001376318.1:c.23C>T, NM_001376324.2:c.23C>T, NM_001376324.1:c.23C>T, NM_001376319.2:c.23C>T, NM_001376319.1:c.23C>T, NM_001376329.2:c.-802C>T, NM_001376329.1:c.-802C>T, NM_001354350.2:c.-705C>T, NM_001354350.1:c.-705C>T, NM_001376310.2:c.23C>T, NM_001376310.1:c.23C>T, NM_001376307.2:c.23C>T, NM_001376307.1:c.23C>T, NM_001376306.2:c.23C>T, NM_001376306.1:c.23C>T, NM_001376311.2:c.23C>T, NM_001376311.1:c.23C>T, NM_001354352.2:c.23C>T, NM_001354352.1:c.23C>T, NM_001376308.2:c.23C>T, NM_001376308.1:c.23C>T, NR_164805.2:n.247C>T, NR_164805.1:n.247C>T, NM_001376309.2:c.23C>T, NM_001376309.1:c.23C>T, NM_001354354.2:c.23C>T, NM_001354354.1:c.23C>T, NM_001376314.2:c.23C>T, NM_001376314.1:c.23C>T, NM_001376322.2:c.23C>T, NM_001376322.1:c.23C>T, NM_001376317.2:c.23C>T, NM_001376317.1:c.23C>T, NM_001376312.2:c.23C>T, NM_001376312.1:c.23C>T, NM_001376316.2:c.23C>T, NM_001376316.1:c.23C>T, NR_164799.2:n.365C>T, NR_164799.1:n.365C>T, NM_001354360.2:c.23C>T, NM_001354360.1:c.23C>T, NR_164803.2:n.247C>T, NR_164803.1:n.247C>T, NR_164806.2:n.328C>T, NR_164806.1:n.328C>T, NM_001376313.2:c.23C>T, NM_001376313.1:c.23C>T, NR_148872.2:n.256C>T, NR_148872.1:n.256C>T, NR_164808.2:n.247C>T, NR_164808.1:n.247C>T, NR_164801.2:n.247C>T, NR_164801.1:n.247C>T, NM_001376320.2:c.23C>T, NM_001376320.1:c.23C>T, NR_164802.2:n.247C>T, NR_164802.1:n.247C>T, NM_001376321.2:c.23C>T, NM_001376321.1:c.23C>T, NR_164807.2:n.247C>T, NR_164807.1:n.247C>T, NM_001376323.2:c.23C>T, NM_001376323.1:c.23C>T, NR_164800.2:n.303C>T, NR_164800.1:n.303C>T, NM_001376326.2:c.23C>T, NM_001376326.1:c.23C>T, NM_001376325.2:c.23C>T, NM_001376325.1:c.23C>T, NR_164804.2:n.247C>T, NR_164804.1:n.247C>T, NM_001376327.2:c.23C>T, NM_001376327.1:c.23C>T, NM_001354353.2:c.23C>T, NM_001354353.1:c.23C>T, NM_001376331.2:c.23C>T, NM_001376331.1:c.23C>T, NM_001376332.2:c.23C>T, NM_001376332.1:c.23C>T, NM_001354356.2:c.23C>T, NM_001354356.1:c.23C>T, NM_001284235.2:c.23C>T, NM_001284235.1:c.23C>T, XM_047445844.1:c.50C>T, XM_047445842.1:c.50C>T, XM_047445843.1:c.50C>T, XM_047445841.1:c.50C>T, NM_001376330.1:c.23C>T, NM_001354361.1:c.23C>T, NM_001354358.1:c.23C>T, NM_001376328.1:c.23C>T, NP_078935.2:p.Ala8Val, NP_001158101.1:p.Ala8Val, NP_001006637.1:p.Ala8Val, XP_011510157.1:p.Ala8Val, NP_001271162.1:p.Ala8Val, NP_001341291.1:p.Ala8Val, NP_001363244.1:p.Ala8Val, NP_001363247.1:p.Ala8Val, NP_001363253.1:p.Ala8Val, NP_001363248.1:p.Ala8Val, NP_001363239.1:p.Ala8Val, NP_001363236.1:p.Ala8Val, NP_001363235.1:p.Ala8Val, NP_001363240.1:p.Ala8Val, NP_001341281.1:p.Ala8Val, NP_001363237.1:p.Ala8Val, NP_001363238.1:p.Ala8Val, NP_001341283.1:p.Ala8Val, NP_001363243.1:p.Ala8Val, NP_001363251.1:p.Ala8Val, NP_001363246.1:p.Ala8Val, NP_001363241.1:p.Ala8Val, NP_001363245.1:p.Ala8Val, NP_001341289.1:p.Ala8Val, NP_001363242.1:p.Ala8Val, NP_001363249.1:p.Ala8Val, NP_001363250.1:p.Ala8Val, NP_001363252.1:p.Ala8Val, NP_001363255.1:p.Ala8Val, NP_001363254.1:p.Ala8Val, NP_001363256.1:p.Ala8Val, NP_001341282.1:p.Ala8Val, NP_001363260.1:p.Ala8Val, NP_001363261.1:p.Ala8Val, NP_001341285.1:p.Ala8Val, NP_001271164.1:p.Ala8Val, XP_047301800.1:p.Ala17Val, XP_047301798.1:p.Ala17Val, XP_047301799.1:p.Ala17Val, XP_047301797.1:p.Ala17Val, NP_001363259.1:p.Ala8Val, NP_001341290.1:p.Ala8Val, NP_001341287.1:p.Ala8Val, NP_001363257.1:p.Ala8Val

Select item 14736701338.

rs1473670133 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:143970761 (GRCh38)
2:144728328 (GRCh37)
Canonical SPDI:: NC_000002.12:143970760:C:T
Gene:: GTDC1 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant
HGVS:: NC_000002.12:g.143970761C>T, NC_000002.11:g.144728328C>T, NM_001164629.5:c.877G>A, NM_001164629.4:c.877G>A, NM_001164629.3:c.877G>A, NM_001164629.2:c.877G>A, NM_001006636.5:c.877G>A, NM_001006636.4:c.877G>A, NM_001006636.3:c.877G>A, XM_011511855.4:c.1024G>A, XM_011511855.3:c.1024G>A, XM_011511855.2:c.1024G>A, XM_011511855.1:c.1024G>A, XM_011511856.4:c.928G>A, XM_011511856.3:c.928G>A, XM_011511856.2:c.928G>A, XM_011511856.1:c.928G>A, NM_001284233.4:c.877G>A, NM_001284233.3:c.877G>A, NM_001284233.2:c.877G>A, NM_001284233.1:c.877G>A, NM_001354355.3:c.421G>A, NM_001354355.2:c.421G>A, NM_001354355.1:c.421G>A, NM_001284238.3:c.781G>A, NM_001284238.2:c.781G>A, NM_001284238.1:c.781G>A, NM_001354362.3:c.523G>A, NM_001354362.2:c.523G>A, NM_001354362.1:c.523G>A, NM_001284234.3:c.490G>A, NM_001284234.2:c.490G>A, NM_001284234.1:c.490G>A, NR_164809.2:n.1850G>A, NR_164809.1:n.1850G>A, NM_001376315.2:c.877G>A, NM_001376315.1:c.877G>A, NM_001354351.2:c.490G>A, NM_001354351.1:c.490G>A, NM_001376318.2:c.877G>A, NM_001376318.1:c.877G>A, NM_001376319.2:c.877G>A, NM_001376319.1:c.877G>A, NM_001376329.2:c.421G>A, NM_001376329.1:c.421G>A, NM_001354350.2:c.421G>A, NM_001354350.1:c.421G>A, NM_001376310.2:c.877G>A, NM_001376310.1:c.877G>A, NM_001376307.2:c.877G>A, NM_001376307.1:c.877G>A, NM_001376306.2:c.1024G>A, NM_001376306.1:c.1024G>A, NM_001376311.2:c.877G>A, NM_001376311.1:c.877G>A, NM_001354352.2:c.523G>A, NM_001354352.1:c.523G>A, NM_001376308.2:c.877G>A, NM_001376308.1:c.877G>A, NR_164805.2:n.1218G>A, NR_164805.1:n.1218G>A, NM_001376309.2:c.877G>A, NM_001376309.1:c.877G>A, NM_001354354.2:c.877G>A, NM_001354354.1:c.877G>A, NM_001376314.2:c.877G>A, NM_001376314.1:c.877G>A, XM_024453145.2:c.928G>A, XM_024453145.1:c.928G>A, NM_001376317.2:c.1024G>A, NM_001376317.1:c.1024G>A, NM_001376312.2:c.877G>A, NM_001376312.1:c.877G>A, NM_001376316.2:c.874G>A, NM_001376316.1:c.874G>A, NM_001354360.2:c.877G>A, NM_001354360.1:c.877G>A, NR_164803.2:n.1218G>A, NR_164803.1:n.1218G>A, NM_001376313.2:c.877G>A, NM_001376313.1:c.877G>A, NR_164808.2:n.891G>A, NR_164808.1:n.891G>A, NR_164807.2:n.864G>A, NR_164807.1:n.864G>A, NM_001376326.2:c.523G>A, NM_001376326.1:c.523G>A, NM_001376325.2:c.523G>A, NM_001376325.1:c.523G>A, NM_001376327.2:c.523G>A, NM_001376327.1:c.523G>A, NM_001354353.2:c.523G>A, NM_001354353.1:c.523G>A, NM_001376331.2:c.523G>A, NM_001376331.1:c.523G>A, XM_047445844.1:c.1051G>A, XM_047445845.1:c.928G>A, XM_047445842.1:c.1051G>A, XM_047445843.1:c.1051G>A, XM_047445841.1:c.1051G>A, XM_047445846.1:c.637G>A, XM_047445847.1:c.361G>A, NM_001354361.1:c.877G>A, NM_001376328.1:c.523G>A, NP_001158101.1:p.Glu293Lys, NP_001006637.1:p.Glu293Lys, XP_011510157.1:p.Glu342Lys, XP_011510158.1:p.Glu310Lys, NP_001271162.1:p.Glu293Lys, NP_001341284.1:p.Glu141Lys, NP_001271167.1:p.Glu261Lys, NP_001341291.1:p.Glu175Lys, NP_001271163.1:p.Glu164Lys, NP_001363244.1:p.Glu293Lys, NP_001341280.1:p.Glu164Lys, NP_001363247.1:p.Glu293Lys, NP_001363248.1:p.Glu293Lys, NP_001363258.1:p.Glu141Lys, NP_001341279.1:p.Glu141Lys, NP_001363239.1:p.Glu293Lys, NP_001363236.1:p.Glu293Lys, NP_001363235.1:p.Glu342Lys, NP_001363240.1:p.Glu293Lys, NP_001341281.1:p.Glu175Lys, NP_001363237.1:p.Glu293Lys, NP_001363238.1:p.Glu293Lys, NP_001341283.1:p.Glu293Lys, NP_001363243.1:p.Glu293Lys, XP_024308913.1:p.Glu310Lys, NP_001363246.1:p.Glu342Lys, NP_001363241.1:p.Glu293Lys, NP_001363245.1:p.Glu292Lys, NP_001341289.1:p.Glu293Lys, NP_001363242.1:p.Glu293Lys, NP_001363255.1:p.Glu175Lys, NP_001363254.1:p.Glu175Lys, NP_001363256.1:p.Glu175Lys, NP_001341282.1:p.Glu175Lys, NP_001363260.1:p.Glu175Lys, XP_047301800.1:p.Glu351Lys, XP_047301801.1:p.Glu310Lys, XP_047301798.1:p.Glu351Lys, XP_047301799.1:p.Glu351Lys, XP_047301797.1:p.Glu351Lys, XP_047301802.1:p.Glu213Lys, XP_047301803.1:p.Glu121Lys, NP_001341290.1:p.Glu293Lys, NP_001363257.1:p.Glu175Lys

Select item 14733575009.

rs1473357500 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAAAGAAT>-,GAAAGAATGAAAGAAT [Show Flanks]
Chromosome:: 2:144145575 (GRCh38)
2:144903142 (GRCh37)
Canonical SPDI:: NC_000002.12:144145572:ATGAAAGAAT:AT,NC_000002.12:144145572:ATGAAAGAAT:ATGAAAGAATGAAAGAAT
Gene:: GTDC1 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATGAAAGAATGAAAGAAT=0./0 (ALFA)
-=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.144145575_144145582del, NC_000002.12:g.144145575_144145582dup, NC_000002.11:g.144903142_144903149del, NC_000002.11:g.144903142_144903149dup, NM_024659.6:c.339_346del, NM_024659.6:c.339_346dup, NM_024659.5:c.339_346del, NM_024659.5:c.339_346dup, NM_024659.4:c.339_346del, NM_024659.4:c.339_346dup, NM_001164629.5:c.339_346del, NM_001164629.5:c.339_346dup, NM_001164629.4:c.339_346del, NM_001164629.4:c.339_346dup, NM_001164629.3:c.339_346del, NM_001164629.3:c.339_346dup, NM_001164629.2:c.339_346del, NM_001164629.2:c.339_346dup, NM_001006636.5:c.339_346del, NM_001006636.5:c.339_346dup, NM_001006636.4:c.339_346del, NM_001006636.4:c.339_346dup, NM_001006636.3:c.339_346del, NM_001006636.3:c.339_346dup, XM_011511855.4:c.339_346del, XM_011511855.4:c.339_346dup, XM_011511855.3:c.339_346del, XM_011511855.3:c.339_346dup, XM_011511855.2:c.339_346del, XM_011511855.2:c.339_346dup, XM_011511855.1:c.339_346del, XM_011511855.1:c.339_346dup, XM_011511856.4:c.243_250del, XM_011511856.4:c.243_250dup, XM_011511856.3:c.243_250del, XM_011511856.3:c.243_250dup, XM_011511856.2:c.243_250del, XM_011511856.2:c.243_250dup, XM_011511856.1:c.243_250del, XM_011511856.1:c.243_250dup, NM_001284233.4:c.339_346del, NM_001284233.4:c.339_346dup, NM_001284233.3:c.339_346del, NM_001284233.3:c.339_346dup, NM_001284233.2:c.339_346del, NM_001284233.2:c.339_346dup, NM_001284233.1:c.339_346del, NM_001284233.1:c.339_346dup, NM_001354355.3:c.-382_-375del, NM_001354355.3:c.-382_-375dup, NM_001354355.2:c.-382_-375del, NM_001354355.2:c.-382_-375dup, NM_001354355.1:c.-382_-375del, NM_001354355.1:c.-382_-375dup, NM_001284238.3:c.243_250del, NM_001284238.3:c.243_250dup, NM_001284238.2:c.243_250del, NM_001284238.2:c.243_250dup, NM_001284238.1:c.243_250del, NM_001284238.1:c.243_250dup, NM_001354362.3:c.339_346del, NM_001354362.3:c.339_346dup, NM_001354362.2:c.339_346del, NM_001354362.2:c.339_346dup, NM_001354362.1:c.339_346del, NM_001354362.1:c.339_346dup, NM_001284234.3:c.-49_-42del, NM_001284234.3:c.-49_-42dup, NM_001284234.2:c.-49_-42del, NM_001284234.2:c.-49_-42dup, NM_001284234.1:c.-49_-42del, NM_001284234.1:c.-49_-42dup, NR_164809.2:n.1165_1172del, NR_164809.2:n.1165_1172dup, NR_164809.1:n.1165_1172del, NR_164809.1:n.1165_1172dup, NM_001376315.2:c.339_346del, NM_001376315.2:c.339_346dup, NM_001376315.1:c.339_346del, NM_001376315.1:c.339_346dup, NM_001354351.2:c.-49_-42del, NM_001354351.2:c.-49_-42dup, NM_001354351.1:c.-49_-42del, NM_001354351.1:c.-49_-42dup, NM_001376318.2:c.339_346del, NM_001376318.2:c.339_346dup, NM_001376318.1:c.339_346del, NM_001376318.1:c.339_346dup, NM_001376324.2:c.339_346del, NM_001376324.2:c.339_346dup, NM_001376324.1:c.339_346del, NM_001376324.1:c.339_346dup, NM_001376319.2:c.339_346del, NM_001376319.2:c.339_346dup, NM_001376319.1:c.339_346del, NM_001376319.1:c.339_346dup, NM_001376329.2:c.-486_-479del, NM_001376329.2:c.-486_-479dup, NM_001376329.1:c.-486_-479del, NM_001376329.1:c.-486_-479dup, NM_001354350.2:c.-389_-382del, NM_001354350.2:c.-389_-382dup, NM_001354350.1:c.-389_-382del, NM_001354350.1:c.-389_-382dup, NM_001376310.2:c.339_346del, NM_001376310.2:c.339_346dup, NM_001376310.1:c.339_346del, NM_001376310.1:c.339_346dup, NM_001376307.2:c.339_346del, NM_001376307.2:c.339_346dup, NM_001376307.1:c.339_346del, NM_001376307.1:c.339_346dup, NM_001376306.2:c.339_346del, NM_001376306.2:c.339_346dup, NM_001376306.1:c.339_346del, NM_001376306.1:c.339_346dup, NM_001376311.2:c.339_346del, NM_001376311.2:c.339_346dup, NM_001376311.1:c.339_346del, NM_001376311.1:c.339_346dup, NM_001354352.2:c.339_346del, NM_001354352.2:c.339_346dup, NM_001354352.1:c.339_346del, NM_001354352.1:c.339_346dup, NM_001376308.2:c.339_346del, NM_001376308.2:c.339_346dup, NM_001376308.1:c.339_346del, NM_001376308.1:c.339_346dup, NR_164805.2:n.563_570del, NR_164805.2:n.563_570dup, NR_164805.1:n.563_570del, NR_164805.1:n.563_570dup, NM_001376309.2:c.339_346del, NM_001376309.2:c.339_346dup, NM_001376309.1:c.339_346del, NM_001376309.1:c.339_346dup, NM_001354354.2:c.339_346del, NM_001354354.2:c.339_346dup, NM_001354354.1:c.339_346del, NM_001354354.1:c.339_346dup, NM_001376314.2:c.339_346del, NM_001376314.2:c.339_346dup, NM_001376314.1:c.339_346del, NM_001376314.1:c.339_346dup, XM_024453145.2:c.243_250del, XM_024453145.2:c.243_250dup, XM_024453145.1:c.243_250del, XM_024453145.1:c.243_250dup, NM_001376322.2:c.339_346del, NM_001376322.2:c.339_346dup, NM_001376322.1:c.339_346del, NM_001376322.1:c.339_346dup, NM_001376317.2:c.339_346del, NM_001376317.2:c.339_346dup, NM_001376317.1:c.339_346del, NM_001376317.1:c.339_346dup, NM_001376312.2:c.339_346del, NM_001376312.2:c.339_346dup, NM_001376312.1:c.339_346del, NM_001376312.1:c.339_346dup, NM_001376316.2:c.339_346del, NM_001376316.2:c.339_346dup, NM_001376316.1:c.339_346del, NM_001376316.1:c.339_346dup, NR_164799.2:n.681_688del, NR_164799.2:n.681_688dup, NR_164799.1:n.681_688del, NR_164799.1:n.681_688dup, NM_001354360.2:c.339_346del, NM_001354360.2:c.339_346dup, NM_001354360.1:c.339_346del, NM_001354360.1:c.339_346dup, NR_164803.2:n.563_570del, NR_164803.2:n.563_570dup, NR_164803.1:n.563_570del, NR_164803.1:n.563_570dup, NR_164806.2:n.644_651del, NR_164806.2:n.644_651dup, NR_164806.1:n.644_651del, NR_164806.1:n.644_651dup, NM_001376313.2:c.339_346del, NM_001376313.2:c.339_346dup, NM_001376313.1:c.339_346del, NM_001376313.1:c.339_346dup, NR_148872.2:n.572_579del, NR_148872.2:n.572_579dup, NR_148872.1:n.572_579del, NR_148872.1:n.572_579dup, NR_164808.2:n.563_570del, NR_164808.2:n.563_570dup, NR_164808.1:n.563_570del, NR_164808.1:n.563_570dup, NR_164801.2:n.563_570del, NR_164801.2:n.563_570dup, NR_164801.1:n.563_570del, NR_164801.1:n.563_570dup, NM_001376320.2:c.339_346del, NM_001376320.2:c.339_346dup, NM_001376320.1:c.339_346del, NM_001376320.1:c.339_346dup, NR_164802.2:n.563_570del, NR_164802.2:n.563_570dup, NR_164802.1:n.563_570del, NR_164802.1:n.563_570dup, NM_001376321.2:c.339_346del, NM_001376321.2:c.339_346dup, NM_001376321.1:c.339_346del, NM_001376321.1:c.339_346dup, NR_164807.2:n.563_570del, NR_164807.2:n.563_570dup, NR_164807.1:n.563_570del, NR_164807.1:n.563_570dup, NM_001376323.2:c.339_346del, NM_001376323.2:c.339_346dup, NM_001376323.1:c.339_346del, NM_001376323.1:c.339_346dup, NR_164800.2:n.619_626del, NR_164800.2:n.619_626dup, NR_164800.1:n.619_626del, NR_164800.1:n.619_626dup, NM_001376326.2:c.339_346del, NM_001376326.2:c.339_346dup, NM_001376326.1:c.339_346del, NM_001376326.1:c.339_346dup, NM_001376325.2:c.339_346del, NM_001376325.2:c.339_346dup, NM_001376325.1:c.339_346del, NM_001376325.1:c.339_346dup, NR_164804.2:n.563_570del, NR_164804.2:n.563_570dup, NR_164804.1:n.563_570del, NR_164804.1:n.563_570dup, NM_001376327.2:c.339_346del, NM_001376327.2:c.339_346dup, NM_001376327.1:c.339_346del, NM_001376327.1:c.339_346dup, NM_001354353.2:c.339_346del, NM_001354353.2:c.339_346dup, NM_001354353.1:c.339_346del, NM_001354353.1:c.339_346dup, NM_001376331.2:c.339_346del, NM_001376331.2:c.339_346dup, NM_001376331.1:c.339_346del, NM_001376331.1:c.339_346dup, NM_001376332.2:c.339_346del, NM_001376332.2:c.339_346dup, NM_001376332.1:c.339_346del, NM_001376332.1:c.339_346dup, NM_001354356.2:c.339_346del, NM_001354356.2:c.339_346dup, NM_001354356.1:c.339_346del, NM_001354356.1:c.339_346dup, NM_001284235.2:c.339_346del, NM_001284235.2:c.339_346dup, NM_001284235.1:c.339_346del, NM_001284235.1:c.339_346dup, XM_047445844.1:c.366_373del, XM_047445844.1:c.366_373dup, XM_047445845.1:c.243_250del, XM_047445845.1:c.243_250dup, XM_047445842.1:c.366_373del, XM_047445842.1:c.366_373dup, XM_047445843.1:c.366_373del, XM_047445843.1:c.366_373dup, XM_047445841.1:c.366_373del, XM_047445841.1:c.366_373dup, XM_047445846.1:c.-49_-42del, XM_047445846.1:c.-49_-42dup, NM_001376330.1:c.339_346del, NM_001376330.1:c.339_346dup, NM_001354361.1:c.339_346del, NM_001354361.1:c.339_346dup, NM_001354358.1:c.339_346del, NM_001354358.1:c.339_346dup, NM_001376328.1:c.339_346del, NM_001376328.1:c.339_346dup, NP_078935.2:p.Ile113fs, NP_078935.2:p.Cys116fs, NP_001158101.1:p.Ile113fs, NP_001158101.1:p.Cys116fs, NP_001006637.1:p.Ile113fs, NP_001006637.1:p.Cys116fs, XP_011510157.1:p.Ile113fs, XP_011510157.1:p.Cys116fs, XP_011510158.1:p.Ile81fs, XP_011510158.1:p.Cys84fs, NP_001271162.1:p.Ile113fs, NP_001271162.1:p.Cys116fs, NP_001271167.1:p.Ile81fs, NP_001271167.1:p.Cys84fs, NP_001341291.1:p.Ile113fs, NP_001341291.1:p.Cys116fs, NP_001363244.1:p.Ile113fs, NP_001363244.1:p.Cys116fs, NP_001363247.1:p.Ile113fs, NP_001363247.1:p.Cys116fs, NP_001363253.1:p.Ile113fs, NP_001363253.1:p.Cys116fs, NP_001363248.1:p.Ile113fs, NP_001363248.1:p.Cys116fs, NP_001363239.1:p.Ile113fs, NP_001363239.1:p.Cys116fs, NP_001363236.1:p.Ile113fs, NP_001363236.1:p.Cys116fs, NP_001363235.1:p.Ile113fs, NP_001363235.1:p.Cys116fs, NP_001363240.1:p.Ile113fs, NP_001363240.1:p.Cys116fs, NP_001341281.1:p.Ile113fs, NP_001341281.1:p.Cys116fs, NP_001363237.1:p.Ile113fs, NP_001363237.1:p.Cys116fs, NP_001363238.1:p.Ile113fs, NP_001363238.1:p.Cys116fs, NP_001341283.1:p.Ile113fs, NP_001341283.1:p.Cys116fs, NP_001363243.1:p.Ile113fs, NP_001363243.1:p.Cys116fs, XP_024308913.1:p.Ile81fs, XP_024308913.1:p.Cys84fs, NP_001363251.1:p.Ile113fs, NP_001363251.1:p.Cys116fs, NP_001363246.1:p.Ile113fs, NP_001363246.1:p.Cys116fs, NP_001363241.1:p.Ile113fs, NP_001363241.1:p.Cys116fs, NP_001363245.1:p.Ile113fs, NP_001363245.1:p.Cys116fs, NP_001341289.1:p.Ile113fs, NP_001341289.1:p.Cys116fs, NP_001363242.1:p.Ile113fs, NP_001363242.1:p.Cys116fs, NP_001363249.1:p.Ile113fs, NP_001363249.1:p.Cys116fs, NP_001363250.1:p.Ile113fs, NP_001363250.1:p.Cys116fs, NP_001363252.1:p.Ile113fs, NP_001363252.1:p.Cys116fs, NP_001363255.1:p.Ile113fs, NP_001363255.1:p.Cys116fs, NP_001363254.1:p.Ile113fs, NP_001363254.1:p.Cys116fs, NP_001363256.1:p.Ile113fs, NP_001363256.1:p.Cys116fs, NP_001341282.1:p.Ile113fs, NP_001341282.1:p.Cys116fs, NP_001363260.1:p.Ile113fs, NP_001363260.1:p.Cys116fs, NP_001363261.1:p.Ile113fs, NP_001363261.1:p.Cys116fs, NP_001341285.1:p.Ile113fs, NP_001341285.1:p.Cys116fs, NP_001271164.1:p.Ile113fs, NP_001271164.1:p.Cys116fs, XP_047301800.1:p.Ile122fs, XP_047301800.1:p.Cys125fs, XP_047301801.1:p.Ile81fs, XP_047301801.1:p.Cys84fs, XP_047301798.1:p.Ile122fs, XP_047301798.1:p.Cys125fs, XP_047301799.1:p.Ile122fs, XP_047301799.1:p.Cys125fs, XP_047301797.1:p.Ile122fs, XP_047301797.1:p.Cys125fs, NP_001363259.1:p.Ile113fs, NP_001363259.1:p.Cys116fs, NP_001341290.1:p.Ile113fs, NP_001341290.1:p.Cys116fs, NP_001341287.1:p.Ile113fs, NP_001341287.1:p.Cys116fs, NP_001363257.1:p.Ile113fs, NP_001363257.1:p.Cys116fs

Select item 147136551310.

rs1471365513 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:143951985 (GRCh38)
2:144709552 (GRCh37)
Canonical SPDI:: NC_000002.12:143951984:A:G
Gene:: GTDC1 (Varview), LOC101928386 (Varview)
Functional Consequence:: 3_prime_UTR_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000002.12:g.143951985A>G, NC_000002.11:g.144709552A>G, NM_024659.6:c.1035T>C, NM_024659.5:c.1035T>C, NM_024659.4:c.1035T>C, NM_001164629.5:c.1290T>C, NM_001164629.4:c.1290T>C, NM_001164629.3:c.1290T>C, NM_001164629.2:c.1290T>C, NM_001006636.5:c.1290T>C, NM_001006636.4:c.1290T>C, NM_001006636.3:c.1290T>C, XM_011511855.4:c.1437T>C, XM_011511855.3:c.1437T>C, XM_011511855.2:c.1437T>C, XM_011511855.1:c.1437T>C, XM_011511856.4:c.1341T>C, XM_011511856.3:c.1341T>C, XM_011511856.2:c.1341T>C, XM_011511856.1:c.1341T>C, NM_001284233.4:c.*14T>C, NM_001284233.3:c.*14T>C, NM_001284233.2:c.*14T>C, NM_001284233.1:c.*14T>C, NM_001354355.3:c.834T>C, NM_001354355.2:c.834T>C, NM_001354355.1:c.834T>C, NM_001284238.3:c.1194T>C, NM_001284238.2:c.1194T>C, NM_001284238.1:c.1194T>C, NM_001354362.3:c.936T>C, NM_001354362.2:c.936T>C, NM_001354362.1:c.936T>C, NM_001284234.3:c.903T>C, NM_001284234.2:c.903T>C, NM_001284234.1:c.903T>C, NR_164809.2:n.2258T>C, NR_164809.1:n.2258T>C, NM_001376315.2:c.1290T>C, NM_001376315.1:c.1290T>C, NM_001354351.2:c.903T>C, NM_001354351.1:c.903T>C, NM_001376318.2:c.*14T>C, NM_001376318.1:c.*14T>C, NM_001376324.2:c.1035T>C, NM_001376324.1:c.1035T>C, NM_001376319.2:c.*14T>C, NM_001376319.1:c.*14T>C, NM_001376329.2:c.834T>C, NM_001376329.1:c.834T>C, NM_001354350.2:c.834T>C, NM_001354350.1:c.834T>C, NM_001376310.2:c.1290T>C, NM_001376310.1:c.1290T>C, NM_001376307.2:c.1290T>C, NM_001376307.1:c.1290T>C, NM_001376306.2:c.1437T>C, NM_001376306.1:c.1437T>C, NM_001376311.2:c.1290T>C, NM_001376311.1:c.1290T>C, NM_001354352.2:c.936T>C, NM_001354352.1:c.936T>C, NM_001376308.2:c.1290T>C, NM_001376308.1:c.1290T>C, NR_164805.2:n.1631T>C, NR_164805.1:n.1631T>C, NM_001376309.2:c.1290T>C, NM_001376309.1:c.1290T>C, NM_001354354.2:c.1290T>C, NM_001354354.1:c.1290T>C, NM_001376314.2:c.1290T>C, NM_001376314.1:c.1290T>C, XM_024453145.2:c.1341T>C, XM_024453145.1:c.1341T>C, NM_001376322.2:c.1035T>C, NM_001376322.1:c.1035T>C, NM_001376317.2:c.*14T>C, NM_001376317.1:c.*14T>C, NM_001376312.2:c.1290T>C, NM_001376312.1:c.1290T>C, NM_001376316.2:c.1287T>C, NM_001376316.1:c.1287T>C, NR_164799.2:n.1494T>C, NR_164799.1:n.1494T>C, NM_001354360.2:c.*14T>C, NM_001354360.1:c.*14T>C, NR_164803.2:n.1486T>C, NR_164803.1:n.1486T>C, NR_164806.2:n.1485T>C, NR_164806.1:n.1485T>C, NM_001376313.2:c.1290T>C, NM_001376313.1:c.1290T>C, NR_148872.2:n.1413T>C, NR_148872.1:n.1413T>C, NR_164808.2:n.1410T>C, NR_164808.1:n.1410T>C, NR_164801.2:n.1404T>C, NR_164801.1:n.1404T>C, NM_001376320.2:c.1035T>C, NM_001376320.1:c.1035T>C, NR_164802.2:n.1376T>C, NR_164802.1:n.1376T>C, NM_001376321.2:c.1035T>C, NM_001376321.1:c.1035T>C, NR_164807.2:n.1277T>C, NR_164807.1:n.1277T>C, NM_001376323.2:c.1035T>C, NM_001376323.1:c.1035T>C, NR_164800.2:n.1248T>C, NR_164800.1:n.1248T>C, NM_001376326.2:c.936T>C, NM_001376326.1:c.936T>C, NM_001376325.2:c.936T>C, NM_001376325.1:c.936T>C, NR_164804.2:n.1188T>C, NR_164804.1:n.1188T>C, NM_001376327.2:c.936T>C, NM_001376327.1:c.936T>C, NM_001354353.2:c.720T>C, NM_001354353.1:c.720T>C, NM_001376331.2:c.*14T>C, NM_001376331.1:c.*14T>C, NM_001376332.2:c.681T>C, NM_001376332.1:c.681T>C, XM_047445844.1:c.1464T>C, XM_047445845.1:c.1341T>C, XM_047445842.1:c.1464T>C, XM_047445843.1:c.1464T>C, XM_047445841.1:c.1464T>C, XM_047445846.1:c.1050T>C, XM_047445847.1:c.774T>C, NM_001354361.1:c.1290T>C, NM_001376328.1:c.936T>C

Select item 146774118311.

rs1467741183 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 2:143970659 (GRCh38)
2:144728226 (GRCh37)
Canonical SPDI:: NC_000002.12:143970658:C:A,NC_000002.12:143970658:C:T
Gene:: GTDC1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.143970659C>A, NC_000002.12:g.143970659C>T, NC_000002.11:g.144728226C>A, NC_000002.11:g.144728226C>T, NM_001164629.5:c.979G>T, NM_001164629.5:c.979G>A, NM_001164629.4:c.979G>T, NM_001164629.4:c.979G>A, NM_001164629.3:c.979G>T, NM_001164629.3:c.979G>A, NM_001164629.2:c.979G>T, NM_001164629.2:c.979G>A, NM_001006636.5:c.979G>T, NM_001006636.5:c.979G>A, NM_001006636.4:c.979G>T, NM_001006636.4:c.979G>A, NM_001006636.3:c.979G>T, NM_001006636.3:c.979G>A, XM_011511855.4:c.1126G>T, XM_011511855.4:c.1126G>A, XM_011511855.3:c.1126G>T, XM_011511855.3:c.1126G>A, XM_011511855.2:c.1126G>T, XM_011511855.2:c.1126G>A, XM_011511855.1:c.1126G>T, XM_011511855.1:c.1126G>A, XM_011511856.4:c.1030G>T, XM_011511856.4:c.1030G>A, XM_011511856.3:c.1030G>T, XM_011511856.3:c.1030G>A, XM_011511856.2:c.1030G>T, XM_011511856.2:c.1030G>A, XM_011511856.1:c.1030G>T, XM_011511856.1:c.1030G>A, NM_001284233.4:c.979G>T, NM_001284233.4:c.979G>A, NM_001284233.3:c.979G>T, NM_001284233.3:c.979G>A, NM_001284233.2:c.979G>T, NM_001284233.2:c.979G>A, NM_001284233.1:c.979G>T, NM_001284233.1:c.979G>A, NM_001354355.3:c.523G>T, NM_001354355.3:c.523G>A, NM_001354355.2:c.523G>T, NM_001354355.2:c.523G>A, NM_001354355.1:c.523G>T, NM_001354355.1:c.523G>A, NM_001284238.3:c.883G>T, NM_001284238.3:c.883G>A, NM_001284238.2:c.883G>T, NM_001284238.2:c.883G>A, NM_001284238.1:c.883G>T, NM_001284238.1:c.883G>A, NM_001354362.3:c.625G>T, NM_001354362.3:c.625G>A, NM_001354362.2:c.625G>T, NM_001354362.2:c.625G>A, NM_001354362.1:c.625G>T, NM_001354362.1:c.625G>A, NM_001284234.3:c.592G>T, NM_001284234.3:c.592G>A, NM_001284234.2:c.592G>T, NM_001284234.2:c.592G>A, NM_001284234.1:c.592G>T, NM_001284234.1:c.592G>A, NR_164809.2:n.1952G>T, NR_164809.2:n.1952G>A, NR_164809.1:n.1952G>T, NR_164809.1:n.1952G>A, NM_001376315.2:c.979G>T, NM_001376315.2:c.979G>A, NM_001376315.1:c.979G>T, NM_001376315.1:c.979G>A, NM_001354351.2:c.592G>T, NM_001354351.2:c.592G>A, NM_001354351.1:c.592G>T, NM_001354351.1:c.592G>A, NM_001376318.2:c.979G>T, NM_001376318.2:c.979G>A, NM_001376318.1:c.979G>T, NM_001376318.1:c.979G>A, NM_001376319.2:c.979G>T, NM_001376319.2:c.979G>A, NM_001376319.1:c.979G>T, NM_001376319.1:c.979G>A, NM_001376329.2:c.523G>T, NM_001376329.2:c.523G>A, NM_001376329.1:c.523G>T, NM_001376329.1:c.523G>A, NM_001354350.2:c.523G>T, NM_001354350.2:c.523G>A, NM_001354350.1:c.523G>T, NM_001354350.1:c.523G>A, NM_001376310.2:c.979G>T, NM_001376310.2:c.979G>A, NM_001376310.1:c.979G>T, NM_001376310.1:c.979G>A, NM_001376307.2:c.979G>T, NM_001376307.2:c.979G>A, NM_001376307.1:c.979G>T, NM_001376307.1:c.979G>A, NM_001376306.2:c.1126G>T, NM_001376306.2:c.1126G>A, NM_001376306.1:c.1126G>T, NM_001376306.1:c.1126G>A, NM_001376311.2:c.979G>T, NM_001376311.2:c.979G>A, NM_001376311.1:c.979G>T, NM_001376311.1:c.979G>A, NM_001354352.2:c.625G>T, NM_001354352.2:c.625G>A, NM_001354352.1:c.625G>T, NM_001354352.1:c.625G>A, NM_001376308.2:c.979G>T, NM_001376308.2:c.979G>A, NM_001376308.1:c.979G>T, NM_001376308.1:c.979G>A, NR_164805.2:n.1320G>T, NR_164805.2:n.1320G>A, NR_164805.1:n.1320G>T, NR_164805.1:n.1320G>A, NM_001376309.2:c.979G>T, NM_001376309.2:c.979G>A, NM_001376309.1:c.979G>T, NM_001376309.1:c.979G>A, NM_001354354.2:c.979G>T, NM_001354354.2:c.979G>A, NM_001354354.1:c.979G>T, NM_001354354.1:c.979G>A, NM_001376314.2:c.979G>T, NM_001376314.2:c.979G>A, NM_001376314.1:c.979G>T, NM_001376314.1:c.979G>A, XM_024453145.2:c.1030G>T, XM_024453145.2:c.1030G>A, XM_024453145.1:c.1030G>T, XM_024453145.1:c.1030G>A, NM_001376317.2:c.1126G>T, NM_001376317.2:c.1126G>A, NM_001376317.1:c.1126G>T, NM_001376317.1:c.1126G>A, NM_001376312.2:c.979G>T, NM_001376312.2:c.979G>A, NM_001376312.1:c.979G>T, NM_001376312.1:c.979G>A, NM_001376316.2:c.976G>T, NM_001376316.2:c.976G>A, NM_001376316.1:c.976G>T, NM_001376316.1:c.976G>A, NM_001354360.2:c.979G>T, NM_001354360.2:c.979G>A, NM_001354360.1:c.979G>T, NM_001354360.1:c.979G>A, NR_164803.2:n.1320G>T, NR_164803.2:n.1320G>A, NR_164803.1:n.1320G>T, NR_164803.1:n.1320G>A, NM_001376313.2:c.979G>T, NM_001376313.2:c.979G>A, NM_001376313.1:c.979G>T, NM_001376313.1:c.979G>A, NR_164808.2:n.993G>T, NR_164808.2:n.993G>A, NR_164808.1:n.993G>T, NR_164808.1:n.993G>A, NR_164807.2:n.966G>T, NR_164807.2:n.966G>A, NR_164807.1:n.966G>T, NR_164807.1:n.966G>A, NM_001376326.2:c.625G>T, NM_001376326.2:c.625G>A, NM_001376326.1:c.625G>T, NM_001376326.1:c.625G>A, NM_001376325.2:c.625G>T, NM_001376325.2:c.625G>A, NM_001376325.1:c.625G>T, NM_001376325.1:c.625G>A, NM_001376327.2:c.625G>T, NM_001376327.2:c.625G>A, NM_001376327.1:c.625G>T, NM_001376327.1:c.625G>A, NM_001354353.2:c.625G>T, NM_001354353.2:c.625G>A, NM_001354353.1:c.625G>T, NM_001354353.1:c.625G>A, NM_001376331.2:c.625G>T, NM_001376331.2:c.625G>A, NM_001376331.1:c.625G>T, NM_001376331.1:c.625G>A, XM_047445844.1:c.1153G>T, XM_047445844.1:c.1153G>A, XM_047445845.1:c.1030G>T, XM_047445845.1:c.1030G>A, XM_047445842.1:c.1153G>T, XM_047445842.1:c.1153G>A, XM_047445843.1:c.1153G>T, XM_047445843.1:c.1153G>A, XM_047445841.1:c.1153G>T, XM_047445841.1:c.1153G>A, XM_047445846.1:c.739G>T, XM_047445846.1:c.739G>A, XM_047445847.1:c.463G>T, XM_047445847.1:c.463G>A, NM_001354361.1:c.979G>T, NM_001354361.1:c.979G>A, NM_001376328.1:c.625G>T, NM_001376328.1:c.625G>A, NP_001158101.1:p.Val327Phe, NP_001158101.1:p.Val327Ile, NP_001006637.1:p.Val327Phe, NP_001006637.1:p.Val327Ile, XP_011510157.1:p.Val376Phe, XP_011510157.1:p.Val376Ile, XP_011510158.1:p.Val344Phe, XP_011510158.1:p.Val344Ile, NP_001271162.1:p.Val327Phe, NP_001271162.1:p.Val327Ile, NP_001341284.1:p.Val175Phe, NP_001341284.1:p.Val175Ile, NP_001271167.1:p.Val295Phe, NP_001271167.1:p.Val295Ile, NP_001341291.1:p.Val209Phe, NP_001341291.1:p.Val209Ile, NP_001271163.1:p.Val198Phe, NP_001271163.1:p.Val198Ile, NP_001363244.1:p.Val327Phe, NP_001363244.1:p.Val327Ile, NP_001341280.1:p.Val198Phe, NP_001341280.1:p.Val198Ile, NP_001363247.1:p.Val327Phe, NP_001363247.1:p.Val327Ile, NP_001363248.1:p.Val327Phe, NP_001363248.1:p.Val327Ile, NP_001363258.1:p.Val175Phe, NP_001363258.1:p.Val175Ile, NP_001341279.1:p.Val175Phe, NP_001341279.1:p.Val175Ile, NP_001363239.1:p.Val327Phe, NP_001363239.1:p.Val327Ile, NP_001363236.1:p.Val327Phe, NP_001363236.1:p.Val327Ile, NP_001363235.1:p.Val376Phe, NP_001363235.1:p.Val376Ile, NP_001363240.1:p.Val327Phe, NP_001363240.1:p.Val327Ile, NP_001341281.1:p.Val209Phe, NP_001341281.1:p.Val209Ile, NP_001363237.1:p.Val327Phe, NP_001363237.1:p.Val327Ile, NP_001363238.1:p.Val327Phe, NP_001363238.1:p.Val327Ile, NP_001341283.1:p.Val327Phe, NP_001341283.1:p.Val327Ile, NP_001363243.1:p.Val327Phe, NP_001363243.1:p.Val327Ile, XP_024308913.1:p.Val344Phe, XP_024308913.1:p.Val344Ile, NP_001363246.1:p.Val376Phe, NP_001363246.1:p.Val376Ile, NP_001363241.1:p.Val327Phe, NP_001363241.1:p.Val327Ile, NP_001363245.1:p.Val326Phe, NP_001363245.1:p.Val326Ile, NP_001341289.1:p.Val327Phe, NP_001341289.1:p.Val327Ile, NP_001363242.1:p.Val327Phe, NP_001363242.1:p.Val327Ile, NP_001363255.1:p.Val209Phe, NP_001363255.1:p.Val209Ile, NP_001363254.1:p.Val209Phe, NP_001363254.1:p.Val209Ile, NP_001363256.1:p.Val209Phe, NP_001363256.1:p.Val209Ile, NP_001341282.1:p.Val209Phe, NP_001341282.1:p.Val209Ile, NP_001363260.1:p.Val209Phe, NP_001363260.1:p.Val209Ile, XP_047301800.1:p.Val385Phe, XP_047301800.1:p.Val385Ile, XP_047301801.1:p.Val344Phe, XP_047301801.1:p.Val344Ile, XP_047301798.1:p.Val385Phe, XP_047301798.1:p.Val385Ile, XP_047301799.1:p.Val385Phe, XP_047301799.1:p.Val385Ile, XP_047301797.1:p.Val385Phe, XP_047301797.1:p.Val385Ile, XP_047301802.1:p.Val247Phe, XP_047301802.1:p.Val247Ile, XP_047301803.1:p.Val155Phe, XP_047301803.1:p.Val155Ile, NP_001341290.1:p.Val327Phe, NP_001341290.1:p.Val327Ile, NP_001363257.1:p.Val209Phe, NP_001363257.1:p.Val209Ile

Select item 146035205312.

rs1460352053 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:143952025 (GRCh38)
2:144709592 (GRCh37)
Canonical SPDI:: NC_000002.12:143952024:T:C
Gene:: GTDC1 (Varview), LOC101928386 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000002.12:g.143952025T>C, NC_000002.11:g.144709592T>C, NM_024659.6:c.995A>G, NM_024659.5:c.995A>G, NM_024659.4:c.995A>G, NM_001164629.5:c.1250A>G, NM_001164629.4:c.1250A>G, NM_001164629.3:c.1250A>G, NM_001164629.2:c.1250A>G, NM_001006636.5:c.1250A>G, NM_001006636.4:c.1250A>G, NM_001006636.3:c.1250A>G, XM_011511855.4:c.1397A>G, XM_011511855.3:c.1397A>G, XM_011511855.2:c.1397A>G, XM_011511855.1:c.1397A>G, XM_011511856.4:c.1301A>G, XM_011511856.3:c.1301A>G, XM_011511856.2:c.1301A>G, XM_011511856.1:c.1301A>G, NM_001284233.4:c.1105A>G, NM_001284233.3:c.1105A>G, NM_001284233.2:c.1105A>G, NM_001284233.1:c.1105A>G, NM_001354355.3:c.794A>G, NM_001354355.2:c.794A>G, NM_001354355.1:c.794A>G, NM_001284238.3:c.1154A>G, NM_001284238.2:c.1154A>G, NM_001284238.1:c.1154A>G, NM_001354362.3:c.896A>G, NM_001354362.2:c.896A>G, NM_001354362.1:c.896A>G, NM_001284234.3:c.863A>G, NM_001284234.2:c.863A>G, NM_001284234.1:c.863A>G, NR_164809.2:n.2218A>G, NR_164809.1:n.2218A>G, NM_001376315.2:c.1250A>G, NM_001376315.1:c.1250A>G, NM_001354351.2:c.863A>G, NM_001354351.1:c.863A>G, NM_001376318.2:c.1105A>G, NM_001376318.1:c.1105A>G, NM_001376324.2:c.995A>G, NM_001376324.1:c.995A>G, NM_001376319.2:c.1105A>G, NM_001376319.1:c.1105A>G, NM_001376329.2:c.794A>G, NM_001376329.1:c.794A>G, NM_001354350.2:c.794A>G, NM_001354350.1:c.794A>G, NM_001376310.2:c.1250A>G, NM_001376310.1:c.1250A>G, NM_001376307.2:c.1250A>G, NM_001376307.1:c.1250A>G, NM_001376306.2:c.1397A>G, NM_001376306.1:c.1397A>G, NM_001376311.2:c.1250A>G, NM_001376311.1:c.1250A>G, NM_001354352.2:c.896A>G, NM_001354352.1:c.896A>G, NM_001376308.2:c.1250A>G, NM_001376308.1:c.1250A>G, NR_164805.2:n.1591A>G, NR_164805.1:n.1591A>G, NM_001376309.2:c.1250A>G, NM_001376309.1:c.1250A>G, NM_001354354.2:c.1250A>G, NM_001354354.1:c.1250A>G, NM_001376314.2:c.1250A>G, NM_001376314.1:c.1250A>G, XM_024453145.2:c.1301A>G, XM_024453145.1:c.1301A>G, NM_001376322.2:c.995A>G, NM_001376322.1:c.995A>G, NM_001376317.2:c.1252A>G, NM_001376317.1:c.1252A>G, NM_001376312.2:c.1250A>G, NM_001376312.1:c.1250A>G, NM_001376316.2:c.1247A>G, NM_001376316.1:c.1247A>G, NR_164799.2:n.1454A>G, NR_164799.1:n.1454A>G, NM_001354360.2:c.1105A>G, NM_001354360.1:c.1105A>G, NR_164803.2:n.1446A>G, NR_164803.1:n.1446A>G, NR_164806.2:n.1445A>G, NR_164806.1:n.1445A>G, NM_001376313.2:c.1250A>G, NM_001376313.1:c.1250A>G, NR_148872.2:n.1373A>G, NR_148872.1:n.1373A>G, NR_164808.2:n.1370A>G, NR_164808.1:n.1370A>G, NR_164801.2:n.1364A>G, NR_164801.1:n.1364A>G, NM_001376320.2:c.995A>G, NM_001376320.1:c.995A>G, NR_164802.2:n.1336A>G, NR_164802.1:n.1336A>G, NM_001376321.2:c.995A>G, NM_001376321.1:c.995A>G, NR_164807.2:n.1237A>G, NR_164807.1:n.1237A>G, NM_001376323.2:c.995A>G, NM_001376323.1:c.995A>G, NR_164800.2:n.1208A>G, NR_164800.1:n.1208A>G, NM_001376326.2:c.896A>G, NM_001376326.1:c.896A>G, NM_001376325.2:c.896A>G, NM_001376325.1:c.896A>G, NR_164804.2:n.1148A>G, NR_164804.1:n.1148A>G, NM_001376327.2:c.896A>G, NM_001376327.1:c.896A>G, NM_001354353.2:c.680A>G, NM_001354353.1:c.680A>G, NM_001376331.2:c.751A>G, NM_001376331.1:c.751A>G, NM_001376332.2:c.641A>G, NM_001376332.1:c.641A>G, XM_047445844.1:c.1424A>G, XM_047445845.1:c.1301A>G, XM_047445842.1:c.1424A>G, XM_047445843.1:c.1424A>G, XM_047445841.1:c.1424A>G, XM_047445846.1:c.1010A>G, XM_047445847.1:c.734A>G, NM_001354361.1:c.1250A>G, NM_001376328.1:c.896A>G, NP_078935.2:p.Asn332Ser, NP_001158101.1:p.Asn417Ser, NP_001006637.1:p.Asn417Ser, XP_011510157.1:p.Asn466Ser, XP_011510158.1:p.Asn434Ser, NP_001271162.1:p.Ile369Val, NP_001341284.1:p.Asn265Ser, NP_001271167.1:p.Asn385Ser, NP_001341291.1:p.Asn299Ser, NP_001271163.1:p.Asn288Ser, NP_001363244.1:p.Asn417Ser, NP_001341280.1:p.Asn288Ser, NP_001363247.1:p.Ile369Val, NP_001363253.1:p.Asn332Ser, NP_001363248.1:p.Ile369Val, NP_001363258.1:p.Asn265Ser, NP_001341279.1:p.Asn265Ser, NP_001363239.1:p.Asn417Ser, NP_001363236.1:p.Asn417Ser, NP_001363235.1:p.Asn466Ser, NP_001363240.1:p.Asn417Ser, NP_001341281.1:p.Asn299Ser, NP_001363237.1:p.Asn417Ser, NP_001363238.1:p.Asn417Ser, NP_001341283.1:p.Asn417Ser, NP_001363243.1:p.Asn417Ser, XP_024308913.1:p.Asn434Ser, NP_001363251.1:p.Asn332Ser, NP_001363246.1:p.Ile418Val, NP_001363241.1:p.Asn417Ser, NP_001363245.1:p.Asn416Ser, NP_001341289.1:p.Ile369Val, NP_001363242.1:p.Asn417Ser, NP_001363249.1:p.Asn332Ser, NP_001363250.1:p.Asn332Ser, NP_001363252.1:p.Asn332Ser, NP_001363255.1:p.Asn299Ser, NP_001363254.1:p.Asn299Ser, NP_001363256.1:p.Asn299Ser, NP_001341282.1:p.Asn227Ser, NP_001363260.1:p.Ile251Val, NP_001363261.1:p.Asn214Ser, XP_047301800.1:p.Asn475Ser, XP_047301801.1:p.Asn434Ser, XP_047301798.1:p.Asn475Ser, XP_047301799.1:p.Asn475Ser, XP_047301797.1:p.Asn475Ser, XP_047301802.1:p.Asn337Ser, XP_047301803.1:p.Asn245Ser, NP_001341290.1:p.Asn417Ser, NP_001363257.1:p.Asn299Ser

Select item 145936368813.

rs1459363688 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 2:143952832 (GRCh38)
2:144710399 (GRCh37)
Canonical SPDI:: NC_000002.12:143952831:A:C
Gene:: GTDC1 (Varview), LOC101928386 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.143952832A>C, NC_000002.11:g.144710399A>C, NM_024659.6:c.887T>G, NM_024659.5:c.887T>G, NM_024659.4:c.887T>G, NM_001164629.5:c.1142T>G, NM_001164629.4:c.1142T>G, NM_001164629.3:c.1142T>G, NM_001164629.2:c.1142T>G, NM_001006636.5:c.1142T>G, NM_001006636.4:c.1142T>G, NM_001006636.3:c.1142T>G, XM_011511855.4:c.1289T>G, XM_011511855.3:c.1289T>G, XM_011511855.2:c.1289T>G, XM_011511855.1:c.1289T>G, XM_011511856.4:c.1193T>G, XM_011511856.3:c.1193T>G, XM_011511856.2:c.1193T>G, XM_011511856.1:c.1193T>G, NM_001284233.4:c.997T>G, NM_001284233.3:c.997T>G, NM_001284233.2:c.997T>G, NM_001284233.1:c.997T>G, NM_001354355.3:c.686T>G, NM_001354355.2:c.686T>G, NM_001354355.1:c.686T>G, NM_001284238.3:c.1046T>G, NM_001284238.2:c.1046T>G, NM_001284238.1:c.1046T>G, NM_001354362.3:c.788T>G, NM_001354362.2:c.788T>G, NM_001354362.1:c.788T>G, NM_001284234.3:c.755T>G, NM_001284234.2:c.755T>G, NM_001284234.1:c.755T>G, NR_164809.2:n.2110T>G, NR_164809.1:n.2110T>G, NM_001376315.2:c.1142T>G, NM_001376315.1:c.1142T>G, NM_001354351.2:c.755T>G, NM_001354351.1:c.755T>G, NM_001376318.2:c.997T>G, NM_001376318.1:c.997T>G, NM_001376324.2:c.887T>G, NM_001376324.1:c.887T>G, NM_001376319.2:c.997T>G, NM_001376319.1:c.997T>G, NM_001376329.2:c.686T>G, NM_001376329.1:c.686T>G, NM_001354350.2:c.686T>G, NM_001354350.1:c.686T>G, NM_001376310.2:c.1142T>G, NM_001376310.1:c.1142T>G, NM_001376307.2:c.1142T>G, NM_001376307.1:c.1142T>G, NM_001376306.2:c.1289T>G, NM_001376306.1:c.1289T>G, NM_001376311.2:c.1142T>G, NM_001376311.1:c.1142T>G, NM_001354352.2:c.788T>G, NM_001354352.1:c.788T>G, NM_001376308.2:c.1142T>G, NM_001376308.1:c.1142T>G, NR_164805.2:n.1483T>G, NR_164805.1:n.1483T>G, NM_001376309.2:c.1142T>G, NM_001376309.1:c.1142T>G, NM_001354354.2:c.1142T>G, NM_001354354.1:c.1142T>G, NM_001376314.2:c.1142T>G, NM_001376314.1:c.1142T>G, XM_024453145.2:c.1193T>G, XM_024453145.1:c.1193T>G, NM_001376322.2:c.887T>G, NM_001376322.1:c.887T>G, NM_001376317.2:c.1144T>G, NM_001376317.1:c.1144T>G, NM_001376312.2:c.1142T>G, NM_001376312.1:c.1142T>G, NM_001376316.2:c.1139T>G, NM_001376316.1:c.1139T>G, NR_164799.2:n.1346T>G, NR_164799.1:n.1346T>G, NM_001354360.2:c.997T>G, NM_001354360.1:c.997T>G, NR_164803.2:n.1338T>G, NR_164803.1:n.1338T>G, NR_164806.2:n.1337T>G, NR_164806.1:n.1337T>G, NM_001376313.2:c.1142T>G, NM_001376313.1:c.1142T>G, NR_148872.2:n.1265T>G, NR_148872.1:n.1265T>G, NR_164808.2:n.1262T>G, NR_164808.1:n.1262T>G, NR_164801.2:n.1256T>G, NR_164801.1:n.1256T>G, NM_001376320.2:c.887T>G, NM_001376320.1:c.887T>G, NR_164802.2:n.1228T>G, NR_164802.1:n.1228T>G, NM_001376321.2:c.887T>G, NM_001376321.1:c.887T>G, NR_164807.2:n.1129T>G, NR_164807.1:n.1129T>G, NM_001376323.2:c.887T>G, NM_001376323.1:c.887T>G, NM_001376326.2:c.788T>G, NM_001376326.1:c.788T>G, NM_001376325.2:c.788T>G, NM_001376325.1:c.788T>G, NM_001376327.2:c.788T>G, NM_001376327.1:c.788T>G, NM_001376331.2:c.643T>G, NM_001376331.1:c.643T>G, NM_001376332.2:c.533T>G, NM_001376332.1:c.533T>G, XM_047445844.1:c.1316T>G, XM_047445845.1:c.1193T>G, XM_047445842.1:c.1316T>G, XM_047445843.1:c.1316T>G, XM_047445841.1:c.1316T>G, XM_047445846.1:c.902T>G, XM_047445847.1:c.626T>G, NM_001354361.1:c.1142T>G, NM_001376328.1:c.788T>G, NP_078935.2:p.Val296Gly, NP_001158101.1:p.Val381Gly, NP_001006637.1:p.Val381Gly, XP_011510157.1:p.Val430Gly, XP_011510158.1:p.Val398Gly, NP_001271162.1:p.Cys333Gly, NP_001341284.1:p.Val229Gly, NP_001271167.1:p.Val349Gly, NP_001341291.1:p.Val263Gly, NP_001271163.1:p.Val252Gly, NP_001363244.1:p.Val381Gly, NP_001341280.1:p.Val252Gly, NP_001363247.1:p.Cys333Gly, NP_001363253.1:p.Val296Gly, NP_001363248.1:p.Cys333Gly, NP_001363258.1:p.Val229Gly, NP_001341279.1:p.Val229Gly, NP_001363239.1:p.Val381Gly, NP_001363236.1:p.Val381Gly, NP_001363235.1:p.Val430Gly, NP_001363240.1:p.Val381Gly, NP_001341281.1:p.Val263Gly, NP_001363237.1:p.Val381Gly, NP_001363238.1:p.Val381Gly, NP_001341283.1:p.Val381Gly, NP_001363243.1:p.Val381Gly, XP_024308913.1:p.Val398Gly, NP_001363251.1:p.Val296Gly, NP_001363246.1:p.Cys382Gly, NP_001363241.1:p.Val381Gly, NP_001363245.1:p.Val380Gly, NP_001341289.1:p.Cys333Gly, NP_001363242.1:p.Val381Gly, NP_001363249.1:p.Val296Gly, NP_001363250.1:p.Val296Gly, NP_001363252.1:p.Val296Gly, NP_001363255.1:p.Val263Gly, NP_001363254.1:p.Val263Gly, NP_001363256.1:p.Val263Gly, NP_001363260.1:p.Cys215Gly, NP_001363261.1:p.Val178Gly, XP_047301800.1:p.Val439Gly, XP_047301801.1:p.Val398Gly, XP_047301798.1:p.Val439Gly, XP_047301799.1:p.Val439Gly, XP_047301797.1:p.Val439Gly, XP_047301802.1:p.Val301Gly, XP_047301803.1:p.Val209Gly, NP_001341290.1:p.Val381Gly, NP_001363257.1:p.Val263Gly

Select item 145828188014.

rs1458281880 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 2:144145658 (GRCh38)
2:144903225 (GRCh37)
Canonical SPDI:: NC_000002.12:144145657:C:A,NC_000002.12:144145657:C:G
Gene:: GTDC1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,5_prime_UTR_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000142/2 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.144145658C>A, NC_000002.12:g.144145658C>G, NC_000002.11:g.144903225C>A, NC_000002.11:g.144903225C>G, NM_024659.6:c.261G>T, NM_024659.6:c.261G>C, NM_024659.5:c.261G>T, NM_024659.5:c.261G>C, NM_024659.4:c.261G>T, NM_024659.4:c.261G>C, NM_001164629.5:c.261G>T, NM_001164629.5:c.261G>C, NM_001164629.4:c.261G>T, NM_001164629.4:c.261G>C, NM_001164629.3:c.261G>T, NM_001164629.3:c.261G>C, NM_001164629.2:c.261G>T, NM_001164629.2:c.261G>C, NM_001006636.5:c.261G>T, NM_001006636.5:c.261G>C, NM_001006636.4:c.261G>T, NM_001006636.4:c.261G>C, NM_001006636.3:c.261G>T, NM_001006636.3:c.261G>C, XM_011511855.4:c.261G>T, XM_011511855.4:c.261G>C, XM_011511855.3:c.261G>T, XM_011511855.3:c.261G>C, XM_011511855.2:c.261G>T, XM_011511855.2:c.261G>C, XM_011511855.1:c.261G>T, XM_011511855.1:c.261G>C, XM_011511856.4:c.165G>T, XM_011511856.4:c.165G>C, XM_011511856.3:c.165G>T, XM_011511856.3:c.165G>C, XM_011511856.2:c.165G>T, XM_011511856.2:c.165G>C, XM_011511856.1:c.165G>T, XM_011511856.1:c.165G>C, NM_001284233.4:c.261G>T, NM_001284233.4:c.261G>C, NM_001284233.3:c.261G>T, NM_001284233.3:c.261G>C, NM_001284233.2:c.261G>T, NM_001284233.2:c.261G>C, NM_001284233.1:c.261G>T, NM_001284233.1:c.261G>C, NM_001354355.3:c.-460G>T, NM_001354355.3:c.-460G>C, NM_001354355.2:c.-460G>T, NM_001354355.2:c.-460G>C, NM_001354355.1:c.-460G>T, NM_001354355.1:c.-460G>C, NM_001284238.3:c.165G>T, NM_001284238.3:c.165G>C, NM_001284238.2:c.165G>T, NM_001284238.2:c.165G>C, NM_001284238.1:c.165G>T, NM_001284238.1:c.165G>C, NM_001354362.3:c.261G>T, NM_001354362.3:c.261G>C, NM_001354362.2:c.261G>T, NM_001354362.2:c.261G>C, NM_001354362.1:c.261G>T, NM_001354362.1:c.261G>C, NM_001284234.3:c.-127G>T, NM_001284234.3:c.-127G>C, NM_001284234.2:c.-127G>T, NM_001284234.2:c.-127G>C, NM_001284234.1:c.-127G>T, NM_001284234.1:c.-127G>C, NR_164809.2:n.1087G>T, NR_164809.2:n.1087G>C, NR_164809.1:n.1087G>T, NR_164809.1:n.1087G>C, NM_001376315.2:c.261G>T, NM_001376315.2:c.261G>C, NM_001376315.1:c.261G>T, NM_001376315.1:c.261G>C, NM_001354351.2:c.-127G>T, NM_001354351.2:c.-127G>C, NM_001354351.1:c.-127G>T, NM_001354351.1:c.-127G>C, NM_001376318.2:c.261G>T, NM_001376318.2:c.261G>C, NM_001376318.1:c.261G>T, NM_001376318.1:c.261G>C, NM_001376324.2:c.261G>T, NM_001376324.2:c.261G>C, NM_001376324.1:c.261G>T, NM_001376324.1:c.261G>C, NM_001376319.2:c.261G>T, NM_001376319.2:c.261G>C, NM_001376319.1:c.261G>T, NM_001376319.1:c.261G>C, NM_001376329.2:c.-564G>T, NM_001376329.2:c.-564G>C, NM_001376329.1:c.-564G>T, NM_001376329.1:c.-564G>C, NM_001354350.2:c.-467G>T, NM_001354350.2:c.-467G>C, NM_001354350.1:c.-467G>T, NM_001354350.1:c.-467G>C, NM_001376310.2:c.261G>T, NM_001376310.2:c.261G>C, NM_001376310.1:c.261G>T, NM_001376310.1:c.261G>C, NM_001376307.2:c.261G>T, NM_001376307.2:c.261G>C, NM_001376307.1:c.261G>T, NM_001376307.1:c.261G>C, NM_001376306.2:c.261G>T, NM_001376306.2:c.261G>C, NM_001376306.1:c.261G>T, NM_001376306.1:c.261G>C, NM_001376311.2:c.261G>T, NM_001376311.2:c.261G>C, NM_001376311.1:c.261G>T, NM_001376311.1:c.261G>C, NM_001354352.2:c.261G>T, NM_001354352.2:c.261G>C, NM_001354352.1:c.261G>T, NM_001354352.1:c.261G>C, NM_001376308.2:c.261G>T, NM_001376308.2:c.261G>C, NM_001376308.1:c.261G>T, NM_001376308.1:c.261G>C, NR_164805.2:n.485G>T, NR_164805.2:n.485G>C, NR_164805.1:n.485G>T, NR_164805.1:n.485G>C, NM_001376309.2:c.261G>T, NM_001376309.2:c.261G>C, NM_001376309.1:c.261G>T, NM_001376309.1:c.261G>C, NM_001354354.2:c.261G>T, NM_001354354.2:c.261G>C, NM_001354354.1:c.261G>T, NM_001354354.1:c.261G>C, NM_001376314.2:c.261G>T, NM_001376314.2:c.261G>C, NM_001376314.1:c.261G>T, NM_001376314.1:c.261G>C, XM_024453145.2:c.165G>T, XM_024453145.2:c.165G>C, XM_024453145.1:c.165G>T, XM_024453145.1:c.165G>C, NM_001376322.2:c.261G>T, NM_001376322.2:c.261G>C, NM_001376322.1:c.261G>T, NM_001376322.1:c.261G>C, NM_001376317.2:c.261G>T, NM_001376317.2:c.261G>C, NM_001376317.1:c.261G>T, NM_001376317.1:c.261G>C, NM_001376312.2:c.261G>T, NM_001376312.2:c.261G>C, NM_001376312.1:c.261G>T, NM_001376312.1:c.261G>C, NM_001376316.2:c.261G>T, NM_001376316.2:c.261G>C, NM_001376316.1:c.261G>T, NM_001376316.1:c.261G>C, NR_164799.2:n.603G>T, NR_164799.2:n.603G>C, NR_164799.1:n.603G>T, NR_164799.1:n.603G>C, NM_001354360.2:c.261G>T, NM_001354360.2:c.261G>C, NM_001354360.1:c.261G>T, NM_001354360.1:c.261G>C, NR_164803.2:n.485G>T, NR_164803.2:n.485G>C, NR_164803.1:n.485G>T, NR_164803.1:n.485G>C, NR_164806.2:n.566G>T, NR_164806.2:n.566G>C, NR_164806.1:n.566G>T, NR_164806.1:n.566G>C, NM_001376313.2:c.261G>T, NM_001376313.2:c.261G>C, NM_001376313.1:c.261G>T, NM_001376313.1:c.261G>C, NR_148872.2:n.494G>T, NR_148872.2:n.494G>C, NR_148872.1:n.494G>T, NR_148872.1:n.494G>C, NR_164808.2:n.485G>T, NR_164808.2:n.485G>C, NR_164808.1:n.485G>T, NR_164808.1:n.485G>C, NR_164801.2:n.485G>T, NR_164801.2:n.485G>C, NR_164801.1:n.485G>T, NR_164801.1:n.485G>C, NM_001376320.2:c.261G>T, NM_001376320.2:c.261G>C, NM_001376320.1:c.261G>T, NM_001376320.1:c.261G>C, NR_164802.2:n.485G>T, NR_164802.2:n.485G>C, NR_164802.1:n.485G>T, NR_164802.1:n.485G>C, NM_001376321.2:c.261G>T, NM_001376321.2:c.261G>C, NM_001376321.1:c.261G>T, NM_001376321.1:c.261G>C, NR_164807.2:n.485G>T, NR_164807.2:n.485G>C, NR_164807.1:n.485G>T, NR_164807.1:n.485G>C, NM_001376323.2:c.261G>T, NM_001376323.2:c.261G>C, NM_001376323.1:c.261G>T, NM_001376323.1:c.261G>C, NR_164800.2:n.541G>T, NR_164800.2:n.541G>C, NR_164800.1:n.541G>T, NR_164800.1:n.541G>C, NM_001376326.2:c.261G>T, NM_001376326.2:c.261G>C, NM_001376326.1:c.261G>T, NM_001376326.1:c.261G>C, NM_001376325.2:c.261G>T, NM_001376325.2:c.261G>C, NM_001376325.1:c.261G>T, NM_001376325.1:c.261G>C, NR_164804.2:n.485G>T, NR_164804.2:n.485G>C, NR_164804.1:n.485G>T, NR_164804.1:n.485G>C, NM_001376327.2:c.261G>T, NM_001376327.2:c.261G>C, NM_001376327.1:c.261G>T, NM_001376327.1:c.261G>C, NM_001354353.2:c.261G>T, NM_001354353.2:c.261G>C, NM_001354353.1:c.261G>T, NM_001354353.1:c.261G>C, NM_001376331.2:c.261G>T, NM_001376331.2:c.261G>C, NM_001376331.1:c.261G>T, NM_001376331.1:c.261G>C, NM_001376332.2:c.261G>T, NM_001376332.2:c.261G>C, NM_001376332.1:c.261G>T, NM_001376332.1:c.261G>C, NM_001354356.2:c.261G>T, NM_001354356.2:c.261G>C, NM_001354356.1:c.261G>T, NM_001354356.1:c.261G>C, NM_001284235.2:c.261G>T, NM_001284235.2:c.261G>C, NM_001284235.1:c.261G>T, NM_001284235.1:c.261G>C, XM_047445844.1:c.288G>T, XM_047445844.1:c.288G>C, XM_047445845.1:c.165G>T, XM_047445845.1:c.165G>C, XM_047445842.1:c.288G>T, XM_047445842.1:c.288G>C, XM_047445843.1:c.288G>T, XM_047445843.1:c.288G>C, XM_047445841.1:c.288G>T, XM_047445841.1:c.288G>C, XM_047445846.1:c.-127G>T, XM_047445846.1:c.-127G>C, NM_001376330.1:c.261G>T, NM_001376330.1:c.261G>C, NM_001354361.1:c.261G>T, NM_001354361.1:c.261G>C, NM_001354358.1:c.261G>T, NM_001354358.1:c.261G>C, NM_001376328.1:c.261G>T, NM_001376328.1:c.261G>C

Select item 145815329815.

rs1458153298 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 2:144145632 (GRCh38)
2:144903199 (GRCh37)
Canonical SPDI:: NC_000002.12:144145631:T:A
Gene:: GTDC1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,5_prime_UTR_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.144145632T>A, NC_000002.11:g.144903199T>A, NM_024659.6:c.287A>T, NM_024659.5:c.287A>T, NM_024659.4:c.287A>T, NM_001164629.5:c.287A>T, NM_001164629.4:c.287A>T, NM_001164629.3:c.287A>T, NM_001164629.2:c.287A>T, NM_001006636.5:c.287A>T, NM_001006636.4:c.287A>T, NM_001006636.3:c.287A>T, XM_011511855.4:c.287A>T, XM_011511855.3:c.287A>T, XM_011511855.2:c.287A>T, XM_011511855.1:c.287A>T, XM_011511856.4:c.191A>T, XM_011511856.3:c.191A>T, XM_011511856.2:c.191A>T, XM_011511856.1:c.191A>T, NM_001284233.4:c.287A>T, NM_001284233.3:c.287A>T, NM_001284233.2:c.287A>T, NM_001284233.1:c.287A>T, NM_001354355.3:c.-434A>T, NM_001354355.2:c.-434A>T, NM_001354355.1:c.-434A>T, NM_001284238.3:c.191A>T, NM_001284238.2:c.191A>T, NM_001284238.1:c.191A>T, NM_001354362.3:c.287A>T, NM_001354362.2:c.287A>T, NM_001354362.1:c.287A>T, NM_001284234.3:c.-101A>T, NM_001284234.2:c.-101A>T, NM_001284234.1:c.-101A>T, NR_164809.2:n.1113A>T, NR_164809.1:n.1113A>T, NM_001376315.2:c.287A>T, NM_001376315.1:c.287A>T, NM_001354351.2:c.-101A>T, NM_001354351.1:c.-101A>T, NM_001376318.2:c.287A>T, NM_001376318.1:c.287A>T, NM_001376324.2:c.287A>T, NM_001376324.1:c.287A>T, NM_001376319.2:c.287A>T, NM_001376319.1:c.287A>T, NM_001376329.2:c.-538A>T, NM_001376329.1:c.-538A>T, NM_001354350.2:c.-441A>T, NM_001354350.1:c.-441A>T, NM_001376310.2:c.287A>T, NM_001376310.1:c.287A>T, NM_001376307.2:c.287A>T, NM_001376307.1:c.287A>T, NM_001376306.2:c.287A>T, NM_001376306.1:c.287A>T, NM_001376311.2:c.287A>T, NM_001376311.1:c.287A>T, NM_001354352.2:c.287A>T, NM_001354352.1:c.287A>T, NM_001376308.2:c.287A>T, NM_001376308.1:c.287A>T, NR_164805.2:n.511A>T, NR_164805.1:n.511A>T, NM_001376309.2:c.287A>T, NM_001376309.1:c.287A>T, NM_001354354.2:c.287A>T, NM_001354354.1:c.287A>T, NM_001376314.2:c.287A>T, NM_001376314.1:c.287A>T, XM_024453145.2:c.191A>T, XM_024453145.1:c.191A>T, NM_001376322.2:c.287A>T, NM_001376322.1:c.287A>T, NM_001376317.2:c.287A>T, NM_001376317.1:c.287A>T, NM_001376312.2:c.287A>T, NM_001376312.1:c.287A>T, NM_001376316.2:c.287A>T, NM_001376316.1:c.287A>T, NR_164799.2:n.629A>T, NR_164799.1:n.629A>T, NM_001354360.2:c.287A>T, NM_001354360.1:c.287A>T, NR_164803.2:n.511A>T, NR_164803.1:n.511A>T, NR_164806.2:n.592A>T, NR_164806.1:n.592A>T, NM_001376313.2:c.287A>T, NM_001376313.1:c.287A>T, NR_148872.2:n.520A>T, NR_148872.1:n.520A>T, NR_164808.2:n.511A>T, NR_164808.1:n.511A>T, NR_164801.2:n.511A>T, NR_164801.1:n.511A>T, NM_001376320.2:c.287A>T, NM_001376320.1:c.287A>T, NR_164802.2:n.511A>T, NR_164802.1:n.511A>T, NM_001376321.2:c.287A>T, NM_001376321.1:c.287A>T, NR_164807.2:n.511A>T, NR_164807.1:n.511A>T, NM_001376323.2:c.287A>T, NM_001376323.1:c.287A>T, NR_164800.2:n.567A>T, NR_164800.1:n.567A>T, NM_001376326.2:c.287A>T, NM_001376326.1:c.287A>T, NM_001376325.2:c.287A>T, NM_001376325.1:c.287A>T, NR_164804.2:n.511A>T, NR_164804.1:n.511A>T, NM_001376327.2:c.287A>T, NM_001376327.1:c.287A>T, NM_001354353.2:c.287A>T, NM_001354353.1:c.287A>T, NM_001376331.2:c.287A>T, NM_001376331.1:c.287A>T, NM_001376332.2:c.287A>T, NM_001376332.1:c.287A>T, NM_001354356.2:c.287A>T, NM_001354356.1:c.287A>T, NM_001284235.2:c.287A>T, NM_001284235.1:c.287A>T, XM_047445844.1:c.314A>T, XM_047445845.1:c.191A>T, XM_047445842.1:c.314A>T, XM_047445843.1:c.314A>T, XM_047445841.1:c.314A>T, XM_047445846.1:c.-101A>T, NM_001376330.1:c.287A>T, NM_001354361.1:c.287A>T, NM_001354358.1:c.287A>T, NM_001376328.1:c.287A>T, NP_078935.2:p.Tyr96Phe, NP_001158101.1:p.Tyr96Phe, NP_001006637.1:p.Tyr96Phe, XP_011510157.1:p.Tyr96Phe, XP_011510158.1:p.Tyr64Phe, NP_001271162.1:p.Tyr96Phe, NP_001271167.1:p.Tyr64Phe, NP_001341291.1:p.Tyr96Phe, NP_001363244.1:p.Tyr96Phe, NP_001363247.1:p.Tyr96Phe, NP_001363253.1:p.Tyr96Phe, NP_001363248.1:p.Tyr96Phe, NP_001363239.1:p.Tyr96Phe, NP_001363236.1:p.Tyr96Phe, NP_001363235.1:p.Tyr96Phe, NP_001363240.1:p.Tyr96Phe, NP_001341281.1:p.Tyr96Phe, NP_001363237.1:p.Tyr96Phe, NP_001363238.1:p.Tyr96Phe, NP_001341283.1:p.Tyr96Phe, NP_001363243.1:p.Tyr96Phe, XP_024308913.1:p.Tyr64Phe, NP_001363251.1:p.Tyr96Phe, NP_001363246.1:p.Tyr96Phe, NP_001363241.1:p.Tyr96Phe, NP_001363245.1:p.Tyr96Phe, NP_001341289.1:p.Tyr96Phe, NP_001363242.1:p.Tyr96Phe, NP_001363249.1:p.Tyr96Phe, NP_001363250.1:p.Tyr96Phe, NP_001363252.1:p.Tyr96Phe, NP_001363255.1:p.Tyr96Phe, NP_001363254.1:p.Tyr96Phe, NP_001363256.1:p.Tyr96Phe, NP_001341282.1:p.Tyr96Phe, NP_001363260.1:p.Tyr96Phe, NP_001363261.1:p.Tyr96Phe, NP_001341285.1:p.Tyr96Phe, NP_001271164.1:p.Tyr96Phe, XP_047301800.1:p.Tyr105Phe, XP_047301801.1:p.Tyr64Phe, XP_047301798.1:p.Tyr105Phe, XP_047301799.1:p.Tyr105Phe, XP_047301797.1:p.Tyr105Phe, NP_001363259.1:p.Tyr96Phe, NP_001341290.1:p.Tyr96Phe, NP_001341287.1:p.Tyr96Phe, NP_001363257.1:p.Tyr96Phe

Select item 145764923316.

rs1457649233 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:144142010 (GRCh38)
2:144899577 (GRCh37)
Canonical SPDI:: NC_000002.12:144142009:T:C
Gene:: GTDC1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,5_prime_UTR_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000002.12:g.144142010T>C, NC_000002.11:g.144899577T>C, NM_024659.6:c.393A>G, NM_024659.5:c.393A>G, NM_024659.4:c.393A>G, NM_001164629.5:c.393A>G, NM_001164629.4:c.393A>G, NM_001164629.3:c.393A>G, NM_001164629.2:c.393A>G, NM_001006636.5:c.393A>G, NM_001006636.4:c.393A>G, NM_001006636.3:c.393A>G, XM_011511855.4:c.393A>G, XM_011511855.3:c.393A>G, XM_011511855.2:c.393A>G, XM_011511855.1:c.393A>G, XM_011511856.4:c.297A>G, XM_011511856.3:c.297A>G, XM_011511856.2:c.297A>G, XM_011511856.1:c.297A>G, NM_001284233.4:c.393A>G, NM_001284233.3:c.393A>G, NM_001284233.2:c.393A>G, NM_001284233.1:c.393A>G, NM_001354355.3:c.-328A>G, NM_001354355.2:c.-328A>G, NM_001354355.1:c.-328A>G, NM_001284238.3:c.297A>G, NM_001284238.2:c.297A>G, NM_001284238.1:c.297A>G, NM_001354362.3:c.393A>G, NM_001354362.2:c.393A>G, NM_001354362.1:c.393A>G, NM_001284234.3:c.6A>G, NM_001284234.2:c.6A>G, NM_001284234.1:c.6A>G, NR_164809.2:n.1219A>G, NR_164809.1:n.1219A>G, NM_001376315.2:c.393A>G, NM_001376315.1:c.393A>G, NM_001354351.2:c.6A>G, NM_001354351.1:c.6A>G, NM_001376318.2:c.393A>G, NM_001376318.1:c.393A>G, NM_001376324.2:c.393A>G, NM_001376324.1:c.393A>G, NM_001376319.2:c.393A>G, NM_001376319.1:c.393A>G, NM_001376329.2:c.-432A>G, NM_001376329.1:c.-432A>G, NM_001354350.2:c.-335A>G, NM_001354350.1:c.-335A>G, NM_001376310.2:c.393A>G, NM_001376310.1:c.393A>G, NM_001376307.2:c.393A>G, NM_001376307.1:c.393A>G, NM_001376306.2:c.393A>G, NM_001376306.1:c.393A>G, NM_001376311.2:c.393A>G, NM_001376311.1:c.393A>G, NM_001354352.2:c.393A>G, NM_001354352.1:c.393A>G, NM_001376308.2:c.393A>G, NM_001376308.1:c.393A>G, NR_164805.2:n.617A>G, NR_164805.1:n.617A>G, NM_001376309.2:c.393A>G, NM_001376309.1:c.393A>G, NM_001354354.2:c.393A>G, NM_001354354.1:c.393A>G, NM_001376314.2:c.393A>G, NM_001376314.1:c.393A>G, XM_024453145.2:c.297A>G, XM_024453145.1:c.297A>G, NM_001376322.2:c.393A>G, NM_001376322.1:c.393A>G, NM_001376317.2:c.393A>G, NM_001376317.1:c.393A>G, NM_001376312.2:c.393A>G, NM_001376312.1:c.393A>G, NM_001376316.2:c.393A>G, NM_001376316.1:c.393A>G, NR_164799.2:n.735A>G, NR_164799.1:n.735A>G, NM_001354360.2:c.393A>G, NM_001354360.1:c.393A>G, NR_164803.2:n.617A>G, NR_164803.1:n.617A>G, NR_164806.2:n.698A>G, NR_164806.1:n.698A>G, NM_001376313.2:c.393A>G, NM_001376313.1:c.393A>G, NR_148872.2:n.626A>G, NR_148872.1:n.626A>G, NR_164808.2:n.617A>G, NR_164808.1:n.617A>G, NR_164801.2:n.617A>G, NR_164801.1:n.617A>G, NM_001376320.2:c.393A>G, NM_001376320.1:c.393A>G, NR_164802.2:n.617A>G, NR_164802.1:n.617A>G, NM_001376321.2:c.393A>G, NM_001376321.1:c.393A>G, NR_164807.2:n.617A>G, NR_164807.1:n.617A>G, NM_001376323.2:c.393A>G, NM_001376323.1:c.393A>G, NR_164800.2:n.677A>G, NR_164800.1:n.677A>G, NM_001376326.2:c.393A>G, NM_001376326.1:c.393A>G, NM_001376325.2:c.393A>G, NM_001376325.1:c.393A>G, NR_164804.2:n.617A>G, NR_164804.1:n.617A>G, NM_001376327.2:c.393A>G, NM_001376327.1:c.393A>G, NM_001354353.2:c.393A>G, NM_001354353.1:c.393A>G, NM_001376331.2:c.393A>G, NM_001376331.1:c.393A>G, NM_001376332.2:c.393A>G, NM_001376332.1:c.393A>G, NM_001354356.2:c.393A>G, NM_001354356.1:c.393A>G, NM_001284235.2:c.393A>G, NM_001284235.1:c.393A>G, XM_047445844.1:c.420A>G, XM_047445845.1:c.297A>G, XM_047445842.1:c.420A>G, XM_047445843.1:c.420A>G, XM_047445841.1:c.420A>G, XM_047445846.1:c.6A>G, NM_001376330.1:c.393A>G, NM_001354361.1:c.393A>G, NM_001354358.1:c.393A>G, NM_001376328.1:c.393A>G

Select item 145680278917.

rs1456802789 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:144141941 (GRCh38)
2:144899508 (GRCh37)
Canonical SPDI:: NC_000002.12:144141940:G:A
Gene:: GTDC1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,5_prime_UTR_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.144141941G>A, NC_000002.11:g.144899508G>A, NM_024659.6:c.462C>T, NM_024659.5:c.462C>T, NM_024659.4:c.462C>T, NM_001164629.5:c.462C>T, NM_001164629.4:c.462C>T, NM_001164629.3:c.462C>T, NM_001164629.2:c.462C>T, NM_001006636.5:c.462C>T, NM_001006636.4:c.462C>T, NM_001006636.3:c.462C>T, XM_011511855.4:c.462C>T, XM_011511855.3:c.462C>T, XM_011511855.2:c.462C>T, XM_011511855.1:c.462C>T, XM_011511856.4:c.366C>T, XM_011511856.3:c.366C>T, XM_011511856.2:c.366C>T, XM_011511856.1:c.366C>T, NM_001284233.4:c.462C>T, NM_001284233.3:c.462C>T, NM_001284233.2:c.462C>T, NM_001284233.1:c.462C>T, NM_001354355.3:c.-259C>T, NM_001354355.2:c.-259C>T, NM_001354355.1:c.-259C>T, NM_001284238.3:c.366C>T, NM_001284238.2:c.366C>T, NM_001284238.1:c.366C>T, NM_001354362.3:c.462C>T, NM_001354362.2:c.462C>T, NM_001354362.1:c.462C>T, NM_001284234.3:c.75C>T, NM_001284234.2:c.75C>T, NM_001284234.1:c.75C>T, NR_164809.2:n.1288C>T, NR_164809.1:n.1288C>T, NM_001376315.2:c.462C>T, NM_001376315.1:c.462C>T, NM_001354351.2:c.75C>T, NM_001354351.1:c.75C>T, NM_001376318.2:c.462C>T, NM_001376318.1:c.462C>T, NM_001376324.2:c.462C>T, NM_001376324.1:c.462C>T, NM_001376319.2:c.462C>T, NM_001376319.1:c.462C>T, NM_001376329.2:c.-363C>T, NM_001376329.1:c.-363C>T, NM_001354350.2:c.-266C>T, NM_001354350.1:c.-266C>T, NM_001376310.2:c.462C>T, NM_001376310.1:c.462C>T, NM_001376307.2:c.462C>T, NM_001376307.1:c.462C>T, NM_001376306.2:c.462C>T, NM_001376306.1:c.462C>T, NM_001376311.2:c.462C>T, NM_001376311.1:c.462C>T, NM_001354352.2:c.462C>T, NM_001354352.1:c.462C>T, NM_001376308.2:c.462C>T, NM_001376308.1:c.462C>T, NR_164805.2:n.686C>T, NR_164805.1:n.686C>T, NM_001376309.2:c.462C>T, NM_001376309.1:c.462C>T, NM_001354354.2:c.462C>T, NM_001354354.1:c.462C>T, NM_001376314.2:c.462C>T, NM_001376314.1:c.462C>T, XM_024453145.2:c.366C>T, XM_024453145.1:c.366C>T, NM_001376322.2:c.462C>T, NM_001376322.1:c.462C>T, NM_001376317.2:c.462C>T, NM_001376317.1:c.462C>T, NM_001376312.2:c.462C>T, NM_001376312.1:c.462C>T, NM_001376316.2:c.462C>T, NM_001376316.1:c.462C>T, NR_164799.2:n.804C>T, NR_164799.1:n.804C>T, NM_001354360.2:c.462C>T, NM_001354360.1:c.462C>T, NR_164803.2:n.686C>T, NR_164803.1:n.686C>T, NR_164806.2:n.767C>T, NR_164806.1:n.767C>T, NM_001376313.2:c.462C>T, NM_001376313.1:c.462C>T, NR_148872.2:n.695C>T, NR_148872.1:n.695C>T, NR_164808.2:n.686C>T, NR_164808.1:n.686C>T, NR_164801.2:n.686C>T, NR_164801.1:n.686C>T, NM_001376320.2:c.462C>T, NM_001376320.1:c.462C>T, NR_164802.2:n.686C>T, NR_164802.1:n.686C>T, NM_001376321.2:c.462C>T, NM_001376321.1:c.462C>T, NR_164807.2:n.686C>T, NR_164807.1:n.686C>T, NM_001376323.2:c.462C>T, NM_001376323.1:c.462C>T, NR_164800.2:n.746C>T, NR_164800.1:n.746C>T, NM_001376326.2:c.462C>T, NM_001376326.1:c.462C>T, NM_001376325.2:c.462C>T, NM_001376325.1:c.462C>T, NR_164804.2:n.686C>T, NR_164804.1:n.686C>T, NM_001376327.2:c.462C>T, NM_001376327.1:c.462C>T, NM_001354353.2:c.462C>T, NM_001354353.1:c.462C>T, NM_001376331.2:c.462C>T, NM_001376331.1:c.462C>T, NM_001376332.2:c.462C>T, NM_001376332.1:c.462C>T, NM_001354356.2:c.462C>T, NM_001354356.1:c.462C>T, NM_001284235.2:c.462C>T, NM_001284235.1:c.462C>T, XM_047445844.1:c.489C>T, XM_047445845.1:c.366C>T, XM_047445842.1:c.489C>T, XM_047445843.1:c.489C>T, XM_047445841.1:c.489C>T, XM_047445846.1:c.75C>T, NM_001376330.1:c.462C>T, NM_001354361.1:c.462C>T, NM_001354358.1:c.462C>T, NM_001376328.1:c.462C>T

Select item 145607775018.

rs1456077750 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:144141899 (GRCh38)
2:144899466 (GRCh37)
Canonical SPDI:: NC_000002.12:144141898:C:G
Gene:: GTDC1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,5_prime_UTR_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.144141899C>G, NC_000002.11:g.144899466C>G, NM_024659.6:c.504G>C, NM_024659.5:c.504G>C, NM_024659.4:c.504G>C, NM_001164629.5:c.504G>C, NM_001164629.4:c.504G>C, NM_001164629.3:c.504G>C, NM_001164629.2:c.504G>C, NM_001006636.5:c.504G>C, NM_001006636.4:c.504G>C, NM_001006636.3:c.504G>C, XM_011511855.4:c.504G>C, XM_011511855.3:c.504G>C, XM_011511855.2:c.504G>C, XM_011511855.1:c.504G>C, XM_011511856.4:c.408G>C, XM_011511856.3:c.408G>C, XM_011511856.2:c.408G>C, XM_011511856.1:c.408G>C, NM_001284233.4:c.504G>C, NM_001284233.3:c.504G>C, NM_001284233.2:c.504G>C, NM_001284233.1:c.504G>C, NM_001354355.3:c.-217G>C, NM_001354355.2:c.-217G>C, NM_001354355.1:c.-217G>C, NM_001284238.3:c.408G>C, NM_001284238.2:c.408G>C, NM_001284238.1:c.408G>C, NM_001354362.3:c.504G>C, NM_001354362.2:c.504G>C, NM_001354362.1:c.504G>C, NM_001284234.3:c.117G>C, NM_001284234.2:c.117G>C, NM_001284234.1:c.117G>C, NR_164809.2:n.1330G>C, NR_164809.1:n.1330G>C, NM_001376315.2:c.504G>C, NM_001376315.1:c.504G>C, NM_001354351.2:c.117G>C, NM_001354351.1:c.117G>C, NM_001376318.2:c.504G>C, NM_001376318.1:c.504G>C, NM_001376324.2:c.504G>C, NM_001376324.1:c.504G>C, NM_001376319.2:c.504G>C, NM_001376319.1:c.504G>C, NM_001376329.2:c.-321G>C, NM_001376329.1:c.-321G>C, NM_001354350.2:c.-224G>C, NM_001354350.1:c.-224G>C, NM_001376310.2:c.504G>C, NM_001376310.1:c.504G>C, NM_001376307.2:c.504G>C, NM_001376307.1:c.504G>C, NM_001376306.2:c.504G>C, NM_001376306.1:c.504G>C, NM_001376311.2:c.504G>C, NM_001376311.1:c.504G>C, NM_001354352.2:c.504G>C, NM_001354352.1:c.504G>C, NM_001376308.2:c.504G>C, NM_001376308.1:c.504G>C, NR_164805.2:n.728G>C, NR_164805.1:n.728G>C, NM_001376309.2:c.504G>C, NM_001376309.1:c.504G>C, NM_001354354.2:c.504G>C, NM_001354354.1:c.504G>C, NM_001376314.2:c.504G>C, NM_001376314.1:c.504G>C, XM_024453145.2:c.408G>C, XM_024453145.1:c.408G>C, NM_001376322.2:c.504G>C, NM_001376322.1:c.504G>C, NM_001376317.2:c.504G>C, NM_001376317.1:c.504G>C, NM_001376312.2:c.504G>C, NM_001376312.1:c.504G>C, NM_001376316.2:c.504G>C, NM_001376316.1:c.504G>C, NR_164799.2:n.846G>C, NR_164799.1:n.846G>C, NM_001354360.2:c.504G>C, NM_001354360.1:c.504G>C, NR_164803.2:n.728G>C, NR_164803.1:n.728G>C, NR_164806.2:n.809G>C, NR_164806.1:n.809G>C, NM_001376313.2:c.504G>C, NM_001376313.1:c.504G>C, NR_148872.2:n.737G>C, NR_148872.1:n.737G>C, NR_164808.2:n.728G>C, NR_164808.1:n.728G>C, NR_164801.2:n.728G>C, NR_164801.1:n.728G>C, NM_001376320.2:c.504G>C, NM_001376320.1:c.504G>C, NR_164802.2:n.728G>C, NR_164802.1:n.728G>C, NM_001376321.2:c.504G>C, NM_001376321.1:c.504G>C, NR_164807.2:n.728G>C, NR_164807.1:n.728G>C, NM_001376323.2:c.504G>C, NM_001376323.1:c.504G>C, NR_164800.2:n.788G>C, NR_164800.1:n.788G>C, NM_001376326.2:c.504G>C, NM_001376326.1:c.504G>C, NM_001376325.2:c.504G>C, NM_001376325.1:c.504G>C, NR_164804.2:n.728G>C, NR_164804.1:n.728G>C, NM_001376327.2:c.504G>C, NM_001376327.1:c.504G>C, NM_001354353.2:c.504G>C, NM_001354353.1:c.504G>C, NM_001376331.2:c.504G>C, NM_001376331.1:c.504G>C, NM_001376332.2:c.504G>C, NM_001376332.1:c.504G>C, NM_001354356.2:c.504G>C, NM_001354356.1:c.504G>C, NM_001284235.2:c.504G>C, NM_001284235.1:c.504G>C, XM_047445844.1:c.531G>C, XM_047445845.1:c.408G>C, XM_047445842.1:c.531G>C, XM_047445843.1:c.531G>C, XM_047445841.1:c.531G>C, XM_047445846.1:c.117G>C, NM_001376330.1:c.504G>C, NM_001354361.1:c.504G>C, NM_001354358.1:c.504G>C, NM_001376328.1:c.504G>C, NP_078935.2:p.Arg168Ser, NP_001158101.1:p.Arg168Ser, NP_001006637.1:p.Arg168Ser, XP_011510157.1:p.Arg168Ser, XP_011510158.1:p.Arg136Ser, NP_001271162.1:p.Arg168Ser, NP_001271167.1:p.Arg136Ser, NP_001341291.1:p.Arg168Ser, NP_001271163.1:p.Arg39Ser, NP_001363244.1:p.Arg168Ser, NP_001341280.1:p.Arg39Ser, NP_001363247.1:p.Arg168Ser, NP_001363253.1:p.Arg168Ser, NP_001363248.1:p.Arg168Ser, NP_001363239.1:p.Arg168Ser, NP_001363236.1:p.Arg168Ser, NP_001363235.1:p.Arg168Ser, NP_001363240.1:p.Arg168Ser, NP_001341281.1:p.Arg168Ser, NP_001363237.1:p.Arg168Ser, NP_001363238.1:p.Arg168Ser, NP_001341283.1:p.Arg168Ser, NP_001363243.1:p.Arg168Ser, XP_024308913.1:p.Arg136Ser, NP_001363251.1:p.Arg168Ser, NP_001363246.1:p.Arg168Ser, NP_001363241.1:p.Arg168Ser, NP_001363245.1:p.Arg168Ser, NP_001341289.1:p.Arg168Ser, NP_001363242.1:p.Arg168Ser, NP_001363249.1:p.Arg168Ser, NP_001363250.1:p.Arg168Ser, NP_001363252.1:p.Arg168Ser, NP_001363255.1:p.Arg168Ser, NP_001363254.1:p.Arg168Ser, NP_001363256.1:p.Arg168Ser, NP_001341282.1:p.Arg168Ser, NP_001363260.1:p.Arg168Ser, NP_001363261.1:p.Arg168Ser, NP_001341285.1:p.Arg168Ser, NP_001271164.1:p.Arg168Ser, XP_047301800.1:p.Arg177Ser, XP_047301801.1:p.Arg136Ser, XP_047301798.1:p.Arg177Ser, XP_047301799.1:p.Arg177Ser, XP_047301797.1:p.Arg177Ser, XP_047301802.1:p.Arg39Ser, NP_001363259.1:p.Arg168Ser, NP_001341290.1:p.Arg168Ser, NP_001341287.1:p.Arg168Ser, NP_001363257.1:p.Arg168Ser

Select item 145580094519.

rs1455800945 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:144007249 (GRCh38)
2:144764816 (GRCh37)
Canonical SPDI:: NC_000002.12:144007248:G:C
Gene:: GTDC1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.144007249G>C, NC_000002.11:g.144764816G>C, NM_024659.6:c.808C>G, NM_024659.5:c.808C>G, NM_024659.4:c.808C>G, NM_001164629.5:c.808C>G, NM_001164629.4:c.808C>G, NM_001164629.3:c.808C>G, NM_001164629.2:c.808C>G, NM_001006636.5:c.808C>G, NM_001006636.4:c.808C>G, NM_001006636.3:c.808C>G, XM_011511855.4:c.955C>G, XM_011511855.3:c.955C>G, XM_011511855.2:c.955C>G, XM_011511855.1:c.955C>G, XM_011511856.4:c.859C>G, XM_011511856.3:c.859C>G, XM_011511856.2:c.859C>G, XM_011511856.1:c.859C>G, NM_001284233.4:c.808C>G, NM_001284233.3:c.808C>G, NM_001284233.2:c.808C>G, NM_001284233.1:c.808C>G, NM_001354355.3:c.352C>G, NM_001354355.2:c.352C>G, NM_001354355.1:c.352C>G, NM_001284238.3:c.712C>G, NM_001284238.2:c.712C>G, NM_001284238.1:c.712C>G, NM_001284234.3:c.421C>G, NM_001284234.2:c.421C>G, NM_001284234.1:c.421C>G, NR_164809.2:n.1781C>G, NR_164809.1:n.1781C>G, NM_001376315.2:c.808C>G, NM_001376315.1:c.808C>G, NM_001354351.2:c.421C>G, NM_001354351.1:c.421C>G, NM_001376318.2:c.808C>G, NM_001376318.1:c.808C>G, NM_001376324.2:c.808C>G, NM_001376324.1:c.808C>G, NM_001376319.2:c.808C>G, NM_001376319.1:c.808C>G, NM_001376329.2:c.352C>G, NM_001376329.1:c.352C>G, NM_001354350.2:c.352C>G, NM_001354350.1:c.352C>G, NM_001376310.2:c.808C>G, NM_001376310.1:c.808C>G, NM_001376307.2:c.808C>G, NM_001376307.1:c.808C>G, NM_001376306.2:c.955C>G, NM_001376306.1:c.955C>G, NM_001376311.2:c.808C>G, NM_001376311.1:c.808C>G, NM_001376308.2:c.808C>G, NM_001376308.1:c.808C>G, NR_164805.2:n.1149C>G, NR_164805.1:n.1149C>G, NM_001376309.2:c.808C>G, NM_001376309.1:c.808C>G, NM_001354354.2:c.808C>G, NM_001354354.1:c.808C>G, NM_001376314.2:c.808C>G, NM_001376314.1:c.808C>G, XM_024453145.2:c.859C>G, XM_024453145.1:c.859C>G, NM_001376322.2:c.808C>G, NM_001376322.1:c.808C>G, NM_001376317.2:c.955C>G, NM_001376317.1:c.955C>G, NM_001376312.2:c.808C>G, NM_001376312.1:c.808C>G, NM_001376316.2:c.808C>G, NM_001376316.1:c.808C>G, NR_164799.2:n.1267C>G, NR_164799.1:n.1267C>G, NM_001354360.2:c.808C>G, NM_001354360.1:c.808C>G, NR_164803.2:n.1149C>G, NR_164803.1:n.1149C>G, NR_164806.2:n.1113C>G, NR_164806.1:n.1113C>G, NM_001376313.2:c.808C>G, NM_001376313.1:c.808C>G, NR_148872.2:n.1041C>G, NR_148872.1:n.1041C>G, NR_164801.2:n.1032C>G, NR_164801.1:n.1032C>G, NM_001376320.2:c.808C>G, NM_001376320.1:c.808C>G, NR_164802.2:n.1149C>G, NR_164802.1:n.1149C>G, NM_001376321.2:c.808C>G, NM_001376321.1:c.808C>G, NM_001376323.2:c.808C>G, NM_001376323.1:c.808C>G, NR_164800.2:n.1092C>G, NR_164800.1:n.1092C>G, NR_164804.2:n.1032C>G, NR_164804.1:n.1032C>G, NM_001354356.2:c.808C>G, NM_001354356.1:c.808C>G, NM_001284235.2:c.808C>G, NM_001284235.1:c.808C>G, XM_047445844.1:c.982C>G, XM_047445845.1:c.859C>G, XM_047445842.1:c.982C>G, XM_047445843.1:c.982C>G, XM_047445841.1:c.982C>G, XM_047445846.1:c.568C>G, XM_047445847.1:c.292C>G, NM_001376330.1:c.808C>G, NM_001354361.1:c.808C>G, NM_001354358.1:c.808C>G, NP_078935.2:p.Pro270Ala, NP_001158101.1:p.Pro270Ala, NP_001006637.1:p.Pro270Ala, XP_011510157.1:p.Pro319Ala, XP_011510158.1:p.Pro287Ala, NP_001271162.1:p.Pro270Ala, NP_001341284.1:p.Pro118Ala, NP_001271167.1:p.Pro238Ala, NP_001271163.1:p.Pro141Ala, NP_001363244.1:p.Pro270Ala, NP_001341280.1:p.Pro141Ala, NP_001363247.1:p.Pro270Ala, NP_001363253.1:p.Pro270Ala, NP_001363248.1:p.Pro270Ala, NP_001363258.1:p.Pro118Ala, NP_001341279.1:p.Pro118Ala, NP_001363239.1:p.Pro270Ala, NP_001363236.1:p.Pro270Ala, NP_001363235.1:p.Pro319Ala, NP_001363240.1:p.Pro270Ala, NP_001363237.1:p.Pro270Ala, NP_001363238.1:p.Pro270Ala, NP_001341283.1:p.Pro270Ala, NP_001363243.1:p.Pro270Ala, XP_024308913.1:p.Pro287Ala, NP_001363251.1:p.Pro270Ala, NP_001363246.1:p.Pro319Ala, NP_001363241.1:p.Pro270Ala, NP_001363245.1:p.Pro270Ala, NP_001341289.1:p.Pro270Ala, NP_001363242.1:p.Pro270Ala, NP_001363249.1:p.Pro270Ala, NP_001363250.1:p.Pro270Ala, NP_001363252.1:p.Pro270Ala, NP_001341285.1:p.Pro270Ala, NP_001271164.1:p.Pro270Ala, XP_047301800.1:p.Pro328Ala, XP_047301801.1:p.Pro287Ala, XP_047301798.1:p.Pro328Ala, XP_047301799.1:p.Pro328Ala, XP_047301797.1:p.Pro328Ala, XP_047301802.1:p.Pro190Ala, XP_047301803.1:p.Pro98Ala, NP_001363259.1:p.Pro270Ala, NP_001341290.1:p.Pro270Ala, NP_001341287.1:p.Pro270Ala

Select item 145112311420.

rs1451123114 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:144145646 (GRCh38)
2:144903213 (GRCh37)
Canonical SPDI:: NC_000002.12:144145645:C:T
Gene:: GTDC1 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,genic_upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.144145646C>T, NC_000002.11:g.144903213C>T, NM_024659.6:c.273G>A, NM_024659.5:c.273G>A, NM_024659.4:c.273G>A, NM_001164629.5:c.273G>A, NM_001164629.4:c.273G>A, NM_001164629.3:c.273G>A, NM_001164629.2:c.273G>A, NM_001006636.5:c.273G>A, NM_001006636.4:c.273G>A, NM_001006636.3:c.273G>A, XM_011511855.4:c.273G>A, XM_011511855.3:c.273G>A, XM_011511855.2:c.273G>A, XM_011511855.1:c.273G>A, XM_011511856.4:c.177G>A, XM_011511856.3:c.177G>A, XM_011511856.2:c.177G>A, XM_011511856.1:c.177G>A, NM_001284233.4:c.273G>A, NM_001284233.3:c.273G>A, NM_001284233.2:c.273G>A, NM_001284233.1:c.273G>A, NM_001354355.3:c.-448G>A, NM_001354355.2:c.-448G>A, NM_001354355.1:c.-448G>A, NM_001284238.3:c.177G>A, NM_001284238.2:c.177G>A, NM_001284238.1:c.177G>A, NM_001354362.3:c.273G>A, NM_001354362.2:c.273G>A, NM_001354362.1:c.273G>A, NM_001284234.3:c.-115G>A, NM_001284234.2:c.-115G>A, NM_001284234.1:c.-115G>A, NR_164809.2:n.1099G>A, NR_164809.1:n.1099G>A, NM_001376315.2:c.273G>A, NM_001376315.1:c.273G>A, NM_001354351.2:c.-115G>A, NM_001354351.1:c.-115G>A, NM_001376318.2:c.273G>A, NM_001376318.1:c.273G>A, NM_001376324.2:c.273G>A, NM_001376324.1:c.273G>A, NM_001376319.2:c.273G>A, NM_001376319.1:c.273G>A, NM_001376329.2:c.-552G>A, NM_001376329.1:c.-552G>A, NM_001354350.2:c.-455G>A, NM_001354350.1:c.-455G>A, NM_001376310.2:c.273G>A, NM_001376310.1:c.273G>A, NM_001376307.2:c.273G>A, NM_001376307.1:c.273G>A, NM_001376306.2:c.273G>A, NM_001376306.1:c.273G>A, NM_001376311.2:c.273G>A, NM_001376311.1:c.273G>A, NM_001354352.2:c.273G>A, NM_001354352.1:c.273G>A, NM_001376308.2:c.273G>A, NM_001376308.1:c.273G>A, NR_164805.2:n.497G>A, NR_164805.1:n.497G>A, NM_001376309.2:c.273G>A, NM_001376309.1:c.273G>A, NM_001354354.2:c.273G>A, NM_001354354.1:c.273G>A, NM_001376314.2:c.273G>A, NM_001376314.1:c.273G>A, XM_024453145.2:c.177G>A, XM_024453145.1:c.177G>A, NM_001376322.2:c.273G>A, NM_001376322.1:c.273G>A, NM_001376317.2:c.273G>A, NM_001376317.1:c.273G>A, NM_001376312.2:c.273G>A, NM_001376312.1:c.273G>A, NM_001376316.2:c.273G>A, NM_001376316.1:c.273G>A, NR_164799.2:n.615G>A, NR_164799.1:n.615G>A, NM_001354360.2:c.273G>A, NM_001354360.1:c.273G>A, NR_164803.2:n.497G>A, NR_164803.1:n.497G>A, NR_164806.2:n.578G>A, NR_164806.1:n.578G>A, NM_001376313.2:c.273G>A, NM_001376313.1:c.273G>A, NR_148872.2:n.506G>A, NR_148872.1:n.506G>A, NR_164808.2:n.497G>A, NR_164808.1:n.497G>A, NR_164801.2:n.497G>A, NR_164801.1:n.497G>A, NM_001376320.2:c.273G>A, NM_001376320.1:c.273G>A, NR_164802.2:n.497G>A, NR_164802.1:n.497G>A, NM_001376321.2:c.273G>A, NM_001376321.1:c.273G>A, NR_164807.2:n.497G>A, NR_164807.1:n.497G>A, NM_001376323.2:c.273G>A, NM_001376323.1:c.273G>A, NR_164800.2:n.553G>A, NR_164800.1:n.553G>A, NM_001376326.2:c.273G>A, NM_001376326.1:c.273G>A, NM_001376325.2:c.273G>A, NM_001376325.1:c.273G>A, NR_164804.2:n.497G>A, NR_164804.1:n.497G>A, NM_001376327.2:c.273G>A, NM_001376327.1:c.273G>A, NM_001354353.2:c.273G>A, NM_001354353.1:c.273G>A, NM_001376331.2:c.273G>A, NM_001376331.1:c.273G>A, NM_001376332.2:c.273G>A, NM_001376332.1:c.273G>A, NM_001354356.2:c.273G>A, NM_001354356.1:c.273G>A, NM_001284235.2:c.273G>A, NM_001284235.1:c.273G>A, XM_047445844.1:c.300G>A, XM_047445845.1:c.177G>A, XM_047445842.1:c.300G>A, XM_047445843.1:c.300G>A, XM_047445841.1:c.300G>A, XM_047445846.1:c.-115G>A, NM_001376330.1:c.273G>A, NM_001354361.1:c.273G>A, NM_001354358.1:c.273G>A, NM_001376328.1:c.273G>A

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