SNP Links for Protein (Select 110227584) - SNP

Links from Protein

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Select item 14909647211.

rs1490964721 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 11:15178388 (GRCh38)
11:15199934 (GRCh37)
Canonical SPDI:: NC_000011.10:15178387:A:C
Gene:: INSC (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.15178388A>C, NC_000011.9:g.15199934A>C, NM_001031853.5:c.661A>C, NM_001031853.4:c.661A>C, XM_006718227.3:c.520A>C, XM_006718227.2:c.520A>C, XM_006718227.1:c.520A>C, NM_001042536.3:c.520A>C, NM_001042536.2:c.520A>C, XM_011520085.2:c.520A>C, XM_011520085.1:c.520A>C, XM_011520086.2:c.520A>C, XM_011520086.1:c.520A>C, NM_001278314.2:c.520A>C, NM_001278314.1:c.520A>C, XM_017017697.2:c.520A>C, XM_017017697.1:c.520A>C, NM_001278315.2:c.520A>C, NM_001278315.1:c.520A>C, NM_001278313.2:c.520A>C, NM_001278313.1:c.520A>C, NM_001278316.2:c.520A>C, NM_001278316.1:c.520A>C, XM_017017698.2:c.520A>C, XM_017017698.1:c.520A>C, NP_001027024.3:p.Ser221Arg, XP_006718290.1:p.Ser174Arg, NP_001036001.1:p.Ser174Arg, XP_011518387.1:p.Ser174Arg, XP_011518388.1:p.Ser174Arg, NP_001265243.1:p.Ser174Arg, XP_016873186.1:p.Ser174Arg, NP_001265244.1:p.Ser174Arg, NP_001265242.1:p.Ser174Arg, NP_001265245.1:p.Ser174Arg, XP_016873187.1:p.Ser174Arg

Select item 14892356532.

rs1489235653 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:15239049 (GRCh38)
11:15260595 (GRCh37)
Canonical SPDI:: NC_000011.10:15239048:G:A
Gene:: INSC (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.15239049G>A, NC_000011.9:g.15260595G>A, NM_001031853.5:c.1509G>A, NM_001031853.4:c.1509G>A, XM_006718227.3:c.1368G>A, XM_006718227.2:c.1368G>A, XM_006718227.1:c.1368G>A, NM_001042536.3:c.1368G>A, NM_001042536.2:c.1368G>A, XM_011520085.2:c.1368G>A, XM_011520085.1:c.1368G>A, XM_011520086.2:c.1368G>A, XM_011520086.1:c.1368G>A, NM_001278314.2:c.1473G>A, NM_001278314.1:c.1473G>A, XM_017017697.2:c.1368G>A, XM_017017697.1:c.1368G>A, NM_001278315.2:c.1368G>A, NM_001278315.1:c.1368G>A, NM_001278313.2:c.1368G>A, NM_001278313.1:c.1368G>A, NM_001278316.2:c.1242G>A, NM_001278316.1:c.1242G>A, XM_017017698.2:c.1368G>A, XM_017017698.1:c.1368G>A

Select item 14877994873.

rs1487799487 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 11:15245924 (GRCh38)
11:15267470 (GRCh37)
Canonical SPDI:: NC_000011.10:15245923:A:T
Gene:: INSC (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained,terminator_codon_variant,genic_downstream_transcript_variant,stop_lost,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.15245924A>T, NC_000011.9:g.15267470A>T, NM_001031853.5:c.1624A>T, NM_001031853.4:c.1624A>T, XM_006718227.3:c.1483A>T, XM_006718227.2:c.1483A>T, XM_006718227.1:c.1483A>T, NM_001042536.3:c.1483A>T, NM_001042536.2:c.1483A>T, XM_011520086.2:c.1562A>T, XM_011520086.1:c.1562A>T, NM_001278314.2:c.1588A>T, NM_001278314.1:c.1588A>T, XM_017017697.2:c.1483A>T, XM_017017697.1:c.1483A>T, NM_001278315.2:c.1562A>T, NM_001278315.1:c.1562A>T, NM_001278313.2:c.1483A>T, NM_001278313.1:c.1483A>T, NM_001278316.2:c.1357A>T, NM_001278316.1:c.1357A>T, NP_001027024.3:p.Arg542Ter, XP_006718290.1:p.Arg495Ter, NP_001036001.1:p.Arg495Ter, XP_011518388.1:p.Ter521Leu, NP_001265243.1:p.Arg530Ter, XP_016873186.1:p.Arg495Ter, NP_001265244.1:p.Ter521Leu, NP_001265242.1:p.Arg495Ter, NP_001265245.1:p.Arg453Ter

Select item 14871898814.

rs1487189881 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 11:15190807 (GRCh38)
11:15212353 (GRCh37)
Canonical SPDI:: NC_000011.10:15190806:T:G
Gene:: INSC (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.15190807T>G, NC_000011.9:g.15212353T>G, NM_001031853.5:c.827T>G, NM_001031853.4:c.827T>G, XM_006718227.3:c.686T>G, XM_006718227.2:c.686T>G, XM_006718227.1:c.686T>G, NM_001042536.3:c.686T>G, NM_001042536.2:c.686T>G, XM_011520085.2:c.686T>G, XM_011520085.1:c.686T>G, XM_011520086.2:c.686T>G, XM_011520086.1:c.686T>G, NM_001278314.2:c.791T>G, NM_001278314.1:c.791T>G, XM_017017697.2:c.686T>G, XM_017017697.1:c.686T>G, NM_001278315.2:c.686T>G, NM_001278315.1:c.686T>G, NM_001278313.2:c.686T>G, NM_001278313.1:c.686T>G, NM_001278316.2:c.686T>G, NM_001278316.1:c.686T>G, XM_017017698.2:c.686T>G, XM_017017698.1:c.686T>G, NP_001027024.3:p.Ile276Arg, XP_006718290.1:p.Ile229Arg, NP_001036001.1:p.Ile229Arg, XP_011518387.1:p.Ile229Arg, XP_011518388.1:p.Ile229Arg, NP_001265243.1:p.Ile264Arg, XP_016873186.1:p.Ile229Arg, NP_001265244.1:p.Ile229Arg, NP_001265242.1:p.Ile229Arg, NP_001265245.1:p.Ile229Arg, XP_016873187.1:p.Ile229Arg

Select item 14843982635.

rs1484398263 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:15190792 (GRCh38)
11:15212338 (GRCh37)
Canonical SPDI:: NC_000011.10:15190791:C:T
Gene:: INSC (Varview)
Functional Consequence:: missense_variant,coding_sequence_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_000011.10:g.15190792C>T, NC_000011.9:g.15212338C>T, NM_001031853.5:c.812C>T, NM_001031853.4:c.812C>T, XM_006718227.3:c.671C>T, XM_006718227.2:c.671C>T, XM_006718227.1:c.671C>T, NM_001042536.3:c.671C>T, NM_001042536.2:c.671C>T, XM_011520085.2:c.671C>T, XM_011520085.1:c.671C>T, XM_011520086.2:c.671C>T, XM_011520086.1:c.671C>T, NM_001278314.2:c.776C>T, NM_001278314.1:c.776C>T, XM_017017697.2:c.671C>T, XM_017017697.1:c.671C>T, NM_001278315.2:c.671C>T, NM_001278315.1:c.671C>T, NM_001278313.2:c.671C>T, NM_001278313.1:c.671C>T, NM_001278316.2:c.671C>T, NM_001278316.1:c.671C>T, XM_017017698.2:c.671C>T, XM_017017698.1:c.671C>T, NP_001027024.3:p.Pro271Leu, XP_006718290.1:p.Pro224Leu, NP_001036001.1:p.Pro224Leu, XP_011518387.1:p.Pro224Leu, XP_011518388.1:p.Pro224Leu, NP_001265243.1:p.Pro259Leu, XP_016873186.1:p.Pro224Leu, NP_001265244.1:p.Pro224Leu, NP_001265242.1:p.Pro224Leu, NP_001265245.1:p.Pro224Leu, XP_016873187.1:p.Pro224Leu

Select item 14817390016.

rs1481739001 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 11:15178332 (GRCh38)
11:15199878 (GRCh37)
Canonical SPDI:: NC_000011.10:15178331:A:T
Gene:: INSC (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.15178332A>T, NC_000011.9:g.15199878A>T, NM_001031853.5:c.605A>T, NM_001031853.4:c.605A>T, XM_006718227.3:c.464A>T, XM_006718227.2:c.464A>T, XM_006718227.1:c.464A>T, NM_001042536.3:c.464A>T, NM_001042536.2:c.464A>T, XM_011520085.2:c.464A>T, XM_011520085.1:c.464A>T, XM_011520086.2:c.464A>T, XM_011520086.1:c.464A>T, NM_001278314.2:c.464A>T, NM_001278314.1:c.464A>T, XM_017017697.2:c.464A>T, XM_017017697.1:c.464A>T, NM_001278315.2:c.464A>T, NM_001278315.1:c.464A>T, NM_001278313.2:c.464A>T, NM_001278313.1:c.464A>T, NM_001278316.2:c.464A>T, NM_001278316.1:c.464A>T, XM_017017698.2:c.464A>T, XM_017017698.1:c.464A>T, NP_001027024.3:p.Gln202Leu, XP_006718290.1:p.Gln155Leu, NP_001036001.1:p.Gln155Leu, XP_011518387.1:p.Gln155Leu, XP_011518388.1:p.Gln155Leu, NP_001265243.1:p.Gln155Leu, XP_016873186.1:p.Gln155Leu, NP_001265244.1:p.Gln155Leu, NP_001265242.1:p.Gln155Leu, NP_001265245.1:p.Gln155Leu, XP_016873187.1:p.Gln155Leu

Select item 14806824927.

rs1480682492 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 11:15175955 (GRCh38)
11:15197501 (GRCh37)
Canonical SPDI:: NC_000011.10:15175954:A:T
Gene:: INSC (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.15175955A>T, NC_000011.9:g.15197501A>T, NM_001031853.5:c.412A>T, NM_001031853.4:c.412A>T, XM_006718227.3:c.271A>T, XM_006718227.2:c.271A>T, XM_006718227.1:c.271A>T, NM_001042536.3:c.271A>T, NM_001042536.2:c.271A>T, XM_011520085.2:c.271A>T, XM_011520085.1:c.271A>T, XM_011520086.2:c.271A>T, XM_011520086.1:c.271A>T, NM_001278314.2:c.271A>T, NM_001278314.1:c.271A>T, XM_017017697.2:c.271A>T, XM_017017697.1:c.271A>T, NM_001278315.2:c.271A>T, NM_001278315.1:c.271A>T, NM_001278313.2:c.271A>T, NM_001278313.1:c.271A>T, NM_001278316.2:c.271A>T, NM_001278316.1:c.271A>T, XM_017017698.2:c.271A>T, XM_017017698.1:c.271A>T, NP_001027024.3:p.Ile138Phe, XP_006718290.1:p.Ile91Phe, NP_001036001.1:p.Ile91Phe, XP_011518387.1:p.Ile91Phe, XP_011518388.1:p.Ile91Phe, NP_001265243.1:p.Ile91Phe, XP_016873186.1:p.Ile91Phe, NP_001265244.1:p.Ile91Phe, NP_001265242.1:p.Ile91Phe, NP_001265245.1:p.Ile91Phe, XP_016873187.1:p.Ile91Phe

Select item 14785125578.

rs1478512557 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 11:15238985 (GRCh38)
11:15260531 (GRCh37)
Canonical SPDI:: NC_000011.10:15238984:C:G,NC_000011.10:15238984:C:T
Gene:: INSC (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.15238985C>G, NC_000011.10:g.15238985C>T, NC_000011.9:g.15260531C>G, NC_000011.9:g.15260531C>T, NM_001031853.5:c.1445C>G, NM_001031853.5:c.1445C>T, NM_001031853.4:c.1445C>G, NM_001031853.4:c.1445C>T, XM_006718227.3:c.1304C>G, XM_006718227.3:c.1304C>T, XM_006718227.2:c.1304C>G, XM_006718227.2:c.1304C>T, XM_006718227.1:c.1304C>G, XM_006718227.1:c.1304C>T, NM_001042536.3:c.1304C>G, NM_001042536.3:c.1304C>T, NM_001042536.2:c.1304C>G, NM_001042536.2:c.1304C>T, XM_011520085.2:c.1304C>G, XM_011520085.2:c.1304C>T, XM_011520085.1:c.1304C>G, XM_011520085.1:c.1304C>T, XM_011520086.2:c.1304C>G, XM_011520086.2:c.1304C>T, XM_011520086.1:c.1304C>G, XM_011520086.1:c.1304C>T, NM_001278314.2:c.1409C>G, NM_001278314.2:c.1409C>T, NM_001278314.1:c.1409C>G, NM_001278314.1:c.1409C>T, XM_017017697.2:c.1304C>G, XM_017017697.2:c.1304C>T, XM_017017697.1:c.1304C>G, XM_017017697.1:c.1304C>T, NM_001278315.2:c.1304C>G, NM_001278315.2:c.1304C>T, NM_001278315.1:c.1304C>G, NM_001278315.1:c.1304C>T, NM_001278313.2:c.1304C>G, NM_001278313.2:c.1304C>T, NM_001278313.1:c.1304C>G, NM_001278313.1:c.1304C>T, NM_001278316.2:c.1178C>G, NM_001278316.2:c.1178C>T, NM_001278316.1:c.1178C>G, NM_001278316.1:c.1178C>T, XM_017017698.2:c.1304C>G, XM_017017698.2:c.1304C>T, XM_017017698.1:c.1304C>G, XM_017017698.1:c.1304C>T, NP_001027024.3:p.Ala482Gly, NP_001027024.3:p.Ala482Val, XP_006718290.1:p.Ala435Gly, XP_006718290.1:p.Ala435Val, NP_001036001.1:p.Ala435Gly, NP_001036001.1:p.Ala435Val, XP_011518387.1:p.Ala435Gly, XP_011518387.1:p.Ala435Val, XP_011518388.1:p.Ala435Gly, XP_011518388.1:p.Ala435Val, NP_001265243.1:p.Ala470Gly, NP_001265243.1:p.Ala470Val, XP_016873186.1:p.Ala435Gly, XP_016873186.1:p.Ala435Val, NP_001265244.1:p.Ala435Gly, NP_001265244.1:p.Ala435Val, NP_001265242.1:p.Ala435Gly, NP_001265242.1:p.Ala435Val, NP_001265245.1:p.Ala393Gly, NP_001265245.1:p.Ala393Val, XP_016873187.1:p.Ala435Gly, XP_016873187.1:p.Ala435Val

Select item 14781529499.

rs1478152949 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 11:15239000 (GRCh38)
11:15260546 (GRCh37)
Canonical SPDI:: NC_000011.10:15238999:A:C,NC_000011.10:15238999:A:G
Gene:: INSC (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.15239000A>C, NC_000011.10:g.15239000A>G, NC_000011.9:g.15260546A>C, NC_000011.9:g.15260546A>G, NM_001031853.5:c.1460A>C, NM_001031853.5:c.1460A>G, NM_001031853.4:c.1460A>C, NM_001031853.4:c.1460A>G, XM_006718227.3:c.1319A>C, XM_006718227.3:c.1319A>G, XM_006718227.2:c.1319A>C, XM_006718227.2:c.1319A>G, XM_006718227.1:c.1319A>C, XM_006718227.1:c.1319A>G, NM_001042536.3:c.1319A>C, NM_001042536.3:c.1319A>G, NM_001042536.2:c.1319A>C, NM_001042536.2:c.1319A>G, XM_011520085.2:c.1319A>C, XM_011520085.2:c.1319A>G, XM_011520085.1:c.1319A>C, XM_011520085.1:c.1319A>G, XM_011520086.2:c.1319A>C, XM_011520086.2:c.1319A>G, XM_011520086.1:c.1319A>C, XM_011520086.1:c.1319A>G, NM_001278314.2:c.1424A>C, NM_001278314.2:c.1424A>G, NM_001278314.1:c.1424A>C, NM_001278314.1:c.1424A>G, XM_017017697.2:c.1319A>C, XM_017017697.2:c.1319A>G, XM_017017697.1:c.1319A>C, XM_017017697.1:c.1319A>G, NM_001278315.2:c.1319A>C, NM_001278315.2:c.1319A>G, NM_001278315.1:c.1319A>C, NM_001278315.1:c.1319A>G, NM_001278313.2:c.1319A>C, NM_001278313.2:c.1319A>G, NM_001278313.1:c.1319A>C, NM_001278313.1:c.1319A>G, NM_001278316.2:c.1193A>C, NM_001278316.2:c.1193A>G, NM_001278316.1:c.1193A>C, NM_001278316.1:c.1193A>G, XM_017017698.2:c.1319A>C, XM_017017698.2:c.1319A>G, XM_017017698.1:c.1319A>C, XM_017017698.1:c.1319A>G, NP_001027024.3:p.Gln487Pro, NP_001027024.3:p.Gln487Arg, XP_006718290.1:p.Gln440Pro, XP_006718290.1:p.Gln440Arg, NP_001036001.1:p.Gln440Pro, NP_001036001.1:p.Gln440Arg, XP_011518387.1:p.Gln440Pro, XP_011518387.1:p.Gln440Arg, XP_011518388.1:p.Gln440Pro, XP_011518388.1:p.Gln440Arg, NP_001265243.1:p.Gln475Pro, NP_001265243.1:p.Gln475Arg, XP_016873186.1:p.Gln440Pro, XP_016873186.1:p.Gln440Arg, NP_001265244.1:p.Gln440Pro, NP_001265244.1:p.Gln440Arg, NP_001265242.1:p.Gln440Pro, NP_001265242.1:p.Gln440Arg, NP_001265245.1:p.Gln398Pro, NP_001265245.1:p.Gln398Arg, XP_016873187.1:p.Gln440Pro, XP_016873187.1:p.Gln440Arg

Select item 147620964510.

rs1476209645 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:15246013 (GRCh38)
11:15267559 (GRCh37)
Canonical SPDI:: NC_000011.10:15246012:C:T
Gene:: INSC (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant,synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000011.10:g.15246013C>T, NC_000011.9:g.15267559C>T, NM_001031853.5:c.1713C>T, NM_001031853.4:c.1713C>T, XM_006718227.3:c.1572C>T, XM_006718227.2:c.1572C>T, XM_006718227.1:c.1572C>T, NM_001042536.3:c.1572C>T, NM_001042536.2:c.1572C>T, XM_011520086.2:c.*88C>T, XM_011520086.1:c.*88C>T, NM_001278314.2:c.1677C>T, NM_001278314.1:c.1677C>T, XM_017017697.2:c.1572C>T, XM_017017697.1:c.1572C>T, NM_001278315.2:c.*88C>T, NM_001278315.1:c.*88C>T, NM_001278313.2:c.1572C>T, NM_001278313.1:c.1572C>T, NM_001278316.2:c.1446C>T, NM_001278316.1:c.1446C>T

Select item 147582073411.

rs1475820734 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:15240451 (GRCh38)
11:15261997 (GRCh37)
Canonical SPDI:: NC_000011.10:15240450:G:A
Gene:: INSC (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.15240451G>A, NC_000011.9:g.15261997G>A, NM_001031853.5:c.1539G>A, NM_001031853.4:c.1539G>A, XM_006718227.3:c.1398G>A, XM_006718227.2:c.1398G>A, XM_006718227.1:c.1398G>A, NM_001042536.3:c.1398G>A, NM_001042536.2:c.1398G>A, XM_011520085.2:c.1398G>A, XM_011520085.1:c.1398G>A, XM_011520086.2:c.1398G>A, XM_011520086.1:c.1398G>A, NM_001278314.2:c.1503G>A, NM_001278314.1:c.1503G>A, XM_017017697.2:c.1398G>A, XM_017017697.1:c.1398G>A, NM_001278315.2:c.1398G>A, NM_001278315.1:c.1398G>A, NM_001278313.2:c.1398G>A, NM_001278313.1:c.1398G>A, NM_001278316.2:c.1272G>A, NM_001278316.1:c.1272G>A, XM_017017698.2:c.1398G>A, XM_017017698.1:c.1398G>A, NP_001027024.3:p.Met513Ile, XP_006718290.1:p.Met466Ile, NP_001036001.1:p.Met466Ile, XP_011518387.1:p.Met466Ile, XP_011518388.1:p.Met466Ile, NP_001265243.1:p.Met501Ile, XP_016873186.1:p.Met466Ile, NP_001265244.1:p.Met466Ile, NP_001265242.1:p.Met466Ile, NP_001265245.1:p.Met424Ile, XP_016873187.1:p.Met466Ile

Select item 147568298512.

rs1475682985 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 11:15176008 (GRCh38)
11:15197554 (GRCh37)
Canonical SPDI:: NC_000011.10:15176007:G:T
Gene:: INSC (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.15176008G>T, NC_000011.9:g.15197554G>T, NM_001031853.5:c.465G>T, NM_001031853.4:c.465G>T, XM_006718227.3:c.324G>T, XM_006718227.2:c.324G>T, XM_006718227.1:c.324G>T, NM_001042536.3:c.324G>T, NM_001042536.2:c.324G>T, XM_011520085.2:c.324G>T, XM_011520085.1:c.324G>T, XM_011520086.2:c.324G>T, XM_011520086.1:c.324G>T, NM_001278314.2:c.324G>T, NM_001278314.1:c.324G>T, XM_017017697.2:c.324G>T, XM_017017697.1:c.324G>T, NM_001278315.2:c.324G>T, NM_001278315.1:c.324G>T, NM_001278313.2:c.324G>T, NM_001278313.1:c.324G>T, NM_001278316.2:c.324G>T, NM_001278316.1:c.324G>T, XM_017017698.2:c.324G>T, XM_017017698.1:c.324G>T

Select item 147436026713.

rs1474360267 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 11:15221511 (GRCh38)
11:15243057 (GRCh37)
Canonical SPDI:: NC_000011.10:15221510:C:A,NC_000011.10:15221510:C:T
Gene:: INSC (Varview)
Functional Consequence:: coding_sequence_variant,missense_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_000011.10:g.15221511C>A, NC_000011.10:g.15221511C>T, NC_000011.9:g.15243057C>A, NC_000011.9:g.15243057C>T, NM_001031853.5:c.995C>A, NM_001031853.5:c.995C>T, NM_001031853.4:c.995C>A, NM_001031853.4:c.995C>T, XM_006718227.3:c.854C>A, XM_006718227.3:c.854C>T, XM_006718227.2:c.854C>A, XM_006718227.2:c.854C>T, XM_006718227.1:c.854C>A, XM_006718227.1:c.854C>T, NM_001042536.3:c.854C>A, NM_001042536.3:c.854C>T, NM_001042536.2:c.854C>A, NM_001042536.2:c.854C>T, XM_011520085.2:c.854C>A, XM_011520085.2:c.854C>T, XM_011520085.1:c.854C>A, XM_011520085.1:c.854C>T, XM_011520086.2:c.854C>A, XM_011520086.2:c.854C>T, XM_011520086.1:c.854C>A, XM_011520086.1:c.854C>T, NM_001278314.2:c.959C>A, NM_001278314.2:c.959C>T, NM_001278314.1:c.959C>A, NM_001278314.1:c.959C>T, XM_017017697.2:c.854C>A, XM_017017697.2:c.854C>T, XM_017017697.1:c.854C>A, XM_017017697.1:c.854C>T, NM_001278315.2:c.854C>A, NM_001278315.2:c.854C>T, NM_001278315.1:c.854C>A, NM_001278315.1:c.854C>T, NM_001278313.2:c.854C>A, NM_001278313.2:c.854C>T, NM_001278313.1:c.854C>A, NM_001278313.1:c.854C>T, NM_001278316.2:c.728C>A, NM_001278316.2:c.728C>T, NM_001278316.1:c.728C>A, NM_001278316.1:c.728C>T, XM_017017698.2:c.854C>A, XM_017017698.2:c.854C>T, XM_017017698.1:c.854C>A, XM_017017698.1:c.854C>T, NP_001027024.3:p.Thr332Asn, NP_001027024.3:p.Thr332Ile, XP_006718290.1:p.Thr285Asn, XP_006718290.1:p.Thr285Ile, NP_001036001.1:p.Thr285Asn, NP_001036001.1:p.Thr285Ile, XP_011518387.1:p.Thr285Asn, XP_011518387.1:p.Thr285Ile, XP_011518388.1:p.Thr285Asn, XP_011518388.1:p.Thr285Ile, NP_001265243.1:p.Thr320Asn, NP_001265243.1:p.Thr320Ile, XP_016873186.1:p.Thr285Asn, XP_016873186.1:p.Thr285Ile, NP_001265244.1:p.Thr285Asn, NP_001265244.1:p.Thr285Ile, NP_001265242.1:p.Thr285Asn, NP_001265242.1:p.Thr285Ile, NP_001265245.1:p.Thr243Asn, NP_001265245.1:p.Thr243Ile, XP_016873187.1:p.Thr285Asn, XP_016873187.1:p.Thr285Ile

Select item 147249968514.

rs1472499685 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 11:15175822 (GRCh38)
11:15197368 (GRCh37)
Canonical SPDI:: NC_000011.10:15175821:C:A
Gene:: INSC (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.15175822C>A, NC_000011.9:g.15197368C>A, NM_001031853.5:c.279C>A, NM_001031853.4:c.279C>A, XM_006718227.3:c.138C>A, XM_006718227.2:c.138C>A, XM_006718227.1:c.138C>A, NM_001042536.3:c.138C>A, NM_001042536.2:c.138C>A, XM_011520085.2:c.138C>A, XM_011520085.1:c.138C>A, XM_011520086.2:c.138C>A, XM_011520086.1:c.138C>A, NM_001278314.2:c.138C>A, NM_001278314.1:c.138C>A, XM_017017697.2:c.138C>A, XM_017017697.1:c.138C>A, NM_001278315.2:c.138C>A, NM_001278315.1:c.138C>A, NM_001278313.2:c.138C>A, NM_001278313.1:c.138C>A, NM_001278316.2:c.138C>A, NM_001278316.1:c.138C>A, XM_017017698.2:c.138C>A, XM_017017698.1:c.138C>A

Select item 147242869115.

rs1472428691 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 11:15245937 (GRCh38)
11:15267483 (GRCh37)
Canonical SPDI:: NC_000011.10:15245936:T:G
Gene:: INSC (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant,missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: G=0.0131/24 (Korea1K)
HGVS:: NC_000011.10:g.15245937T>G, NC_000011.9:g.15267483T>G, NM_001031853.5:c.1637T>G, NM_001031853.4:c.1637T>G, XM_006718227.3:c.1496T>G, XM_006718227.2:c.1496T>G, XM_006718227.1:c.1496T>G, NM_001042536.3:c.1496T>G, NM_001042536.2:c.1496T>G, XM_011520086.2:c.*12T>G, XM_011520086.1:c.*12T>G, NM_001278314.2:c.1601T>G, NM_001278314.1:c.1601T>G, XM_017017697.2:c.1496T>G, XM_017017697.1:c.1496T>G, NM_001278315.2:c.*12T>G, NM_001278315.1:c.*12T>G, NM_001278313.2:c.1496T>G, NM_001278313.1:c.1496T>G, NM_001278316.2:c.1370T>G, NM_001278316.1:c.1370T>G, NP_001027024.3:p.Val546Gly, XP_006718290.1:p.Val499Gly, NP_001036001.1:p.Val499Gly, NP_001265243.1:p.Val534Gly, XP_016873186.1:p.Val499Gly, NP_001265242.1:p.Val499Gly, NP_001265245.1:p.Val457Gly

Select item 147127048816.

rs1471270488 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GTCACC [Show Flanks]
Chromosome:: 11:15149208 (GRCh38)
11:15170755 (GRCh37)
Canonical SPDI:: NC_000011.10:15149208:CCGTCACC:CCGTCACCGTCACC
Gene:: INSC (Varview)
Functional Consequence:: inframe_insertion,coding_sequence_variant
Validated:: by frequency
MAF:: CCGTCA=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.15149211_15149216dup, NC_000011.9:g.15170757_15170762dup, NM_001031853.5:c.178_183dup, NM_001031853.4:c.178_183dup, XM_006718227.3:c.37_42dup, XM_006718227.2:c.37_42dup, XM_006718227.1:c.37_42dup, NM_001042536.3:c.37_42dup, NM_001042536.2:c.37_42dup, XM_011520085.2:c.37_42dup, XM_011520085.1:c.37_42dup, XM_011520086.2:c.37_42dup, XM_011520086.1:c.37_42dup, NM_001278314.2:c.37_42dup, NM_001278314.1:c.37_42dup, XM_017017697.2:c.37_42dup, XM_017017697.1:c.37_42dup, NM_001278315.2:c.37_42dup, NM_001278315.1:c.37_42dup, NM_001278313.2:c.37_42dup, NM_001278313.1:c.37_42dup, NM_001278316.2:c.37_42dup, NM_001278316.1:c.37_42dup, XM_017017698.2:c.37_42dup, XM_017017698.1:c.37_42dup, NP_001027024.3:p.Val60_Thr61dup, XP_006718290.1:p.Val13_Thr14dup, NP_001036001.1:p.Val13_Thr14dup, XP_011518387.1:p.Val13_Thr14dup, XP_011518388.1:p.Val13_Thr14dup, NP_001265243.1:p.Val13_Thr14dup, XP_016873186.1:p.Val13_Thr14dup, NP_001265244.1:p.Val13_Thr14dup, NP_001265242.1:p.Val13_Thr14dup, NP_001265245.1:p.Val13_Thr14dup, XP_016873187.1:p.Val13_Thr14dup

Select item 146905386717.

rs1469053867 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:15235628 (GRCh38)
11:15257174 (GRCh37)
Canonical SPDI:: NC_000011.10:15235627:T:C
Gene:: INSC (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.15235628T>C, NC_000011.9:g.15257174T>C, NM_001031853.5:c.1338T>C, NM_001031853.4:c.1338T>C, XM_006718227.3:c.1197T>C, XM_006718227.2:c.1197T>C, XM_006718227.1:c.1197T>C, NM_001042536.3:c.1197T>C, NM_001042536.2:c.1197T>C, XM_011520085.2:c.1197T>C, XM_011520085.1:c.1197T>C, XM_011520086.2:c.1197T>C, XM_011520086.1:c.1197T>C, NM_001278314.2:c.1302T>C, NM_001278314.1:c.1302T>C, XM_017017697.2:c.1197T>C, XM_017017697.1:c.1197T>C, NM_001278315.2:c.1197T>C, NM_001278315.1:c.1197T>C, NM_001278313.2:c.1197T>C, NM_001278313.1:c.1197T>C, NM_001278316.2:c.1071T>C, NM_001278316.1:c.1071T>C, XM_017017698.2:c.1197T>C, XM_017017698.1:c.1197T>C

Select item 146815258918.

rs1468152589 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:15225749 (GRCh38)
11:15247295 (GRCh37)
Canonical SPDI:: NC_000011.10:15225748:T:C
Gene:: INSC (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000011/3 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000011.10:g.15225749T>C, NC_000011.9:g.15247295T>C, NM_001031853.5:c.1232T>C, NM_001031853.4:c.1232T>C, XM_006718227.3:c.1091T>C, XM_006718227.2:c.1091T>C, XM_006718227.1:c.1091T>C, NM_001042536.3:c.1091T>C, NM_001042536.2:c.1091T>C, XM_011520085.2:c.1091T>C, XM_011520085.1:c.1091T>C, XM_011520086.2:c.1091T>C, XM_011520086.1:c.1091T>C, NM_001278314.2:c.1196T>C, NM_001278314.1:c.1196T>C, XM_017017697.2:c.1091T>C, XM_017017697.1:c.1091T>C, NM_001278315.2:c.1091T>C, NM_001278315.1:c.1091T>C, NM_001278313.2:c.1091T>C, NM_001278313.1:c.1091T>C, NM_001278316.2:c.965T>C, NM_001278316.1:c.965T>C, XM_017017698.2:c.1091T>C, XM_017017698.1:c.1091T>C, NP_001027024.3:p.Leu411Pro, XP_006718290.1:p.Leu364Pro, NP_001036001.1:p.Leu364Pro, XP_011518387.1:p.Leu364Pro, XP_011518388.1:p.Leu364Pro, NP_001265243.1:p.Leu399Pro, XP_016873186.1:p.Leu364Pro, NP_001265244.1:p.Leu364Pro, NP_001265242.1:p.Leu364Pro, NP_001265245.1:p.Leu322Pro, XP_016873187.1:p.Leu364Pro

Select item 146738100619.

rs1467381006 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:15225780 (GRCh38)
11:15247326 (GRCh37)
Canonical SPDI:: NC_000011.10:15225779:A:G
Gene:: INSC (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000031/1 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.15225780A>G, NC_000011.9:g.15247326A>G, NM_001031853.5:c.1263A>G, NM_001031853.4:c.1263A>G, XM_006718227.3:c.1122A>G, XM_006718227.2:c.1122A>G, XM_006718227.1:c.1122A>G, NM_001042536.3:c.1122A>G, NM_001042536.2:c.1122A>G, XM_011520085.2:c.1122A>G, XM_011520085.1:c.1122A>G, XM_011520086.2:c.1122A>G, XM_011520086.1:c.1122A>G, NM_001278314.2:c.1227A>G, NM_001278314.1:c.1227A>G, XM_017017697.2:c.1122A>G, XM_017017697.1:c.1122A>G, NM_001278315.2:c.1122A>G, NM_001278315.1:c.1122A>G, NM_001278313.2:c.1122A>G, NM_001278313.1:c.1122A>G, NM_001278316.2:c.996A>G, NM_001278316.1:c.996A>G, XM_017017698.2:c.1122A>G, XM_017017698.1:c.1122A>G

Select item 146332027920.

rs1463320279 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:15175904 (GRCh38)
11:15197450 (GRCh37)
Canonical SPDI:: NC_000011.10:15175903:C:T
Gene:: INSC (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.15175904C>T, NC_000011.9:g.15197450C>T, NM_001031853.5:c.361C>T, NM_001031853.4:c.361C>T, XM_006718227.3:c.220C>T, XM_006718227.2:c.220C>T, XM_006718227.1:c.220C>T, NM_001042536.3:c.220C>T, NM_001042536.2:c.220C>T, XM_011520085.2:c.220C>T, XM_011520085.1:c.220C>T, XM_011520086.2:c.220C>T, XM_011520086.1:c.220C>T, NM_001278314.2:c.220C>T, NM_001278314.1:c.220C>T, XM_017017697.2:c.220C>T, XM_017017697.1:c.220C>T, NM_001278315.2:c.220C>T, NM_001278315.1:c.220C>T, NM_001278313.2:c.220C>T, NM_001278313.1:c.220C>T, NM_001278316.2:c.220C>T, NM_001278316.1:c.220C>T, XM_017017698.2:c.220C>T, XM_017017698.1:c.220C>T

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