SNP Links for Protein (Select 50959102) - SNP

Select item 14907363241.

rs1490736324 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 22:29543460 (GRCh38)
22:29939449 (GRCh37)
Canonical SPDI:: NC_000022.11:29543459:C:G
Gene:: THOC5 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,missense_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_000022.11:g.29543460C>G, NC_000022.10:g.29939449C>G, NM_003678.5:c.323G>C, NM_003678.4:c.323G>C, XM_006724347.2:c.323G>C, XM_006724347.1:c.323G>C, XM_005261799.2:c.323G>C, XM_005261799.1:c.323G>C, XM_005261798.2:c.323G>C, XM_005261798.1:c.323G>C, NM_001002877.2:c.323G>C, NM_001002877.1:c.323G>C, XM_005261797.2:c.323G>C, XM_005261797.1:c.323G>C, XM_047441558.1:c.323G>C, XM_047441559.1:c.323G>C, NM_001002878.1:c.323G>C, NM_001002879.1:c.323G>C, NP_003669.4:p.Arg108Thr, XP_006724410.1:p.Arg108Thr, XP_005261856.1:p.Arg108Thr, XP_005261855.1:p.Arg108Thr, NP_001002877.1:p.Arg108Thr, XP_005261854.1:p.Arg108Thr, XP_047297514.1:p.Arg108Thr, XP_047297515.1:p.Arg108Thr, NP_001002878.1:p.Arg108Thr, NP_001002879.1:p.Arg108Thr

Select item 14897543342.

rs1489754334 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 22:29543527 (GRCh38)
22:29939516 (GRCh37)
Canonical SPDI:: NC_000022.11:29543526:C:G
Gene:: THOC5 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.29543527C>G, NC_000022.10:g.29939516C>G, NM_003678.5:c.256G>C, NM_003678.4:c.256G>C, XM_006724347.2:c.256G>C, XM_006724347.1:c.256G>C, XM_005261799.2:c.256G>C, XM_005261799.1:c.256G>C, XM_005261798.2:c.256G>C, XM_005261798.1:c.256G>C, NM_001002877.2:c.256G>C, NM_001002877.1:c.256G>C, XM_005261797.2:c.256G>C, XM_005261797.1:c.256G>C, XM_047441558.1:c.256G>C, XM_047441559.1:c.256G>C, NM_001002878.1:c.256G>C, NM_001002879.1:c.256G>C, NP_003669.4:p.Glu86Gln, XP_006724410.1:p.Glu86Gln, XP_005261856.1:p.Glu86Gln, XP_005261855.1:p.Glu86Gln, NP_001002877.1:p.Glu86Gln, XP_005261854.1:p.Glu86Gln, XP_047297514.1:p.Glu86Gln, XP_047297515.1:p.Glu86Gln, NP_001002878.1:p.Glu86Gln, NP_001002879.1:p.Glu86Gln

Select item 14889899443.

rs1488989944 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 22:29512031 (GRCh38)
22:29908020 (GRCh37)
Canonical SPDI:: NC_000022.11:29512030:T:C
Gene:: THOC5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.29512031T>C, NC_000022.10:g.29908020T>C, NM_003678.5:c.1787A>G, NM_003678.4:c.1787A>G, XM_005261801.5:c.770A>G, XM_005261801.4:c.770A>G, XM_005261801.3:c.770A>G, XM_005261801.2:c.770A>G, XM_005261801.1:c.770A>G, XM_006724347.2:c.1820A>G, XM_006724347.1:c.1820A>G, XM_005261799.2:c.1820A>G, XM_005261799.1:c.1820A>G, XM_005261798.2:c.1820A>G, XM_005261798.1:c.1820A>G, NM_001002877.2:c.1787A>G, NM_001002877.1:c.1787A>G, XM_005261797.2:c.1820A>G, XM_005261797.1:c.1820A>G, XM_047441558.1:c.1820A>G, XM_047441559.1:c.1787A>G, NM_001002878.1:c.1787A>G, NM_001002879.1:c.1787A>G, NP_003669.4:p.Asp596Gly, XP_005261858.1:p.Asp257Gly, XP_006724410.1:p.Asp607Gly, XP_005261856.1:p.Asp607Gly, XP_005261855.1:p.Asp607Gly, NP_001002877.1:p.Asp596Gly, XP_005261854.1:p.Asp607Gly, XP_047297514.1:p.Asp607Gly, XP_047297515.1:p.Asp596Gly, NP_001002878.1:p.Asp596Gly, NP_001002879.1:p.Asp596Gly

Select item 14870323134.

rs1487032313 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 22:29511210 (GRCh38)
22:29907199 (GRCh37)
Canonical SPDI:: NC_000022.11:29511209:C:A
Gene:: THOC5 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_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_000022.11:g.29511210C>A, NC_000022.10:g.29907199C>A, NM_003678.5:c.1884G>T, NM_003678.4:c.1884G>T, XM_005261801.5:c.867G>T, XM_005261801.4:c.867G>T, XM_005261801.3:c.867G>T, XM_005261801.2:c.867G>T, XM_005261801.1:c.867G>T, XM_006724347.2:c.1917G>T, XM_006724347.1:c.1917G>T, XM_005261799.2:c.1917G>T, XM_005261799.1:c.1917G>T, XM_005261798.2:c.1917G>T, XM_005261798.1:c.1917G>T, NM_001002877.2:c.1884G>T, NM_001002877.1:c.1884G>T, XM_005261797.2:c.1917G>T, XM_005261797.1:c.1917G>T, XM_047441558.1:c.1917G>T, XM_047441559.1:c.1884G>T, NM_001002878.1:c.1884G>T, NM_001002879.1:c.1884G>T

Select item 14857629855.

rs1485762985 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 22:29542867 (GRCh38)
22:29938856 (GRCh37)
Canonical SPDI:: NC_000022.11:29542866:C:G
Gene:: THOC5 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.29542867C>G, NC_000022.10:g.29938856C>G, NM_003678.5:c.444G>C, NM_003678.4:c.444G>C, XM_006724347.2:c.444G>C, XM_006724347.1:c.444G>C, XM_005261799.2:c.444G>C, XM_005261799.1:c.444G>C, XM_005261798.2:c.444G>C, XM_005261798.1:c.444G>C, NM_001002877.2:c.444G>C, NM_001002877.1:c.444G>C, XM_005261797.2:c.444G>C, XM_005261797.1:c.444G>C, XM_047441558.1:c.444G>C, XM_047441559.1:c.444G>C, NM_001002878.1:c.444G>C, NM_001002879.1:c.444G>C, NP_003669.4:p.Leu148Phe, XP_006724410.1:p.Leu148Phe, XP_005261856.1:p.Leu148Phe, XP_005261855.1:p.Leu148Phe, NP_001002877.1:p.Leu148Phe, XP_005261854.1:p.Leu148Phe, XP_047297514.1:p.Leu148Phe, XP_047297515.1:p.Leu148Phe, NP_001002878.1:p.Leu148Phe, NP_001002879.1:p.Leu148Phe

Select item 14855085976.

rs1485508597 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 22:29511205 (GRCh38)
22:29907194 (GRCh37)
Canonical SPDI:: NC_000022.11:29511204:C:G
Gene:: THOC5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000022.11:g.29511205C>G, NC_000022.10:g.29907194C>G, NM_003678.5:c.1889G>C, NM_003678.4:c.1889G>C, XM_005261801.5:c.872G>C, XM_005261801.4:c.872G>C, XM_005261801.3:c.872G>C, XM_005261801.2:c.872G>C, XM_005261801.1:c.872G>C, XM_006724347.2:c.1922G>C, XM_006724347.1:c.1922G>C, XM_005261799.2:c.1922G>C, XM_005261799.1:c.1922G>C, XM_005261798.2:c.1922G>C, XM_005261798.1:c.1922G>C, NM_001002877.2:c.1889G>C, NM_001002877.1:c.1889G>C, XM_005261797.2:c.1922G>C, XM_005261797.1:c.1922G>C, XM_047441558.1:c.1922G>C, XM_047441559.1:c.1889G>C, NM_001002878.1:c.1889G>C, NM_001002879.1:c.1889G>C, NP_003669.4:p.Cys630Ser, XP_005261858.1:p.Cys291Ser, XP_006724410.1:p.Cys641Ser, XP_005261856.1:p.Cys641Ser, XP_005261855.1:p.Cys641Ser, NP_001002877.1:p.Cys630Ser, XP_005261854.1:p.Cys641Ser, XP_047297514.1:p.Cys641Ser, XP_047297515.1:p.Cys630Ser, NP_001002878.1:p.Cys630Ser, NP_001002879.1:p.Cys630Ser

Select item 14818357767.

rs1481835776 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 22:29528104 (GRCh38)
22:29924093 (GRCh37)
Canonical SPDI:: NC_000022.11:29528103:G:A,NC_000022.11:29528103:G:T
Gene:: THOC5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.29528104G>A, NC_000022.11:g.29528104G>T, NC_000022.10:g.29924093G>A, NC_000022.10:g.29924093G>T, NM_003678.5:c.1040C>T, NM_003678.5:c.1040C>A, NM_003678.4:c.1040C>T, NM_003678.4:c.1040C>A, XM_005261801.5:c.23C>T, XM_005261801.5:c.23C>A, XM_005261801.4:c.23C>T, XM_005261801.4:c.23C>A, XM_005261801.3:c.23C>T, XM_005261801.3:c.23C>A, XM_005261801.2:c.23C>T, XM_005261801.2:c.23C>A, XM_005261801.1:c.23C>T, XM_005261801.1:c.23C>A, XM_006724347.2:c.1073C>T, XM_006724347.2:c.1073C>A, XM_006724347.1:c.1073C>T, XM_006724347.1:c.1073C>A, XM_005261799.2:c.1073C>T, XM_005261799.2:c.1073C>A, XM_005261799.1:c.1073C>T, XM_005261799.1:c.1073C>A, XM_005261798.2:c.1073C>T, XM_005261798.2:c.1073C>A, XM_005261798.1:c.1073C>T, XM_005261798.1:c.1073C>A, NM_001002877.2:c.1040C>T, NM_001002877.2:c.1040C>A, NM_001002877.1:c.1040C>T, NM_001002877.1:c.1040C>A, XM_005261797.2:c.1073C>T, XM_005261797.2:c.1073C>A, XM_005261797.1:c.1073C>T, XM_005261797.1:c.1073C>A, XM_047441558.1:c.1073C>T, XM_047441558.1:c.1073C>A, XM_047441559.1:c.1040C>T, XM_047441559.1:c.1040C>A, NM_001002878.1:c.1040C>T, NM_001002878.1:c.1040C>A, NM_001002879.1:c.1040C>T, NM_001002879.1:c.1040C>A, NP_003669.4:p.Ser347Phe, NP_003669.4:p.Ser347Tyr, XP_005261858.1:p.Ser8Phe, XP_005261858.1:p.Ser8Tyr, XP_006724410.1:p.Ser358Phe, XP_006724410.1:p.Ser358Tyr, XP_005261856.1:p.Ser358Phe, XP_005261856.1:p.Ser358Tyr, XP_005261855.1:p.Ser358Phe, XP_005261855.1:p.Ser358Tyr, NP_001002877.1:p.Ser347Phe, NP_001002877.1:p.Ser347Tyr, XP_005261854.1:p.Ser358Phe, XP_005261854.1:p.Ser358Tyr, XP_047297514.1:p.Ser358Phe, XP_047297514.1:p.Ser358Tyr, XP_047297515.1:p.Ser347Phe, XP_047297515.1:p.Ser347Tyr, NP_001002878.1:p.Ser347Phe, NP_001002878.1:p.Ser347Tyr, NP_001002879.1:p.Ser347Phe, NP_001002879.1:p.Ser347Tyr

Select item 14818250828.

rs1481825082 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:29508502 (GRCh38)
22:29904491 (GRCh37)
Canonical SPDI:: NC_000022.11:29508501:C:T
Gene:: THOC5 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000022.11:g.29508502C>T, NC_000022.10:g.29904491C>T, NM_003678.5:c.2007G>A, NM_003678.4:c.2007G>A, XM_005261801.5:c.990G>A, XM_005261801.4:c.990G>A, XM_005261801.3:c.990G>A, XM_005261801.2:c.990G>A, XM_005261801.1:c.990G>A, XM_006724347.2:c.2040G>A, XM_006724347.1:c.2040G>A, XM_005261799.2:c.2040G>A, XM_005261799.1:c.2040G>A, XM_005261798.2:c.2040G>A, XM_005261798.1:c.2040G>A, NM_001002877.2:c.2007G>A, NM_001002877.1:c.2007G>A, XM_005261797.2:c.2040G>A, XM_005261797.1:c.2040G>A, XM_047441558.1:c.2040G>A, XM_047441559.1:c.2007G>A, NM_001002878.1:c.2007G>A, NM_001002879.1:c.2007G>A

Select item 14807438009.

rs1480743800 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:29549143 (GRCh38)
22:29945132 (GRCh37)
Canonical SPDI:: NC_000022.11:29549142:G:A
Gene:: THOC5 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: A=0.000008/2 (GnomAD_exomes)
A=0.000014/2 (GnomAD)
HGVS:: NC_000022.11:g.29549143G>A, NC_000022.10:g.29945132G>A, NM_003678.5:c.5C>T, NM_003678.4:c.5C>T, XM_006724347.2:c.5C>T, XM_006724347.1:c.5C>T, XM_005261799.2:c.5C>T, XM_005261799.1:c.5C>T, XM_005261798.2:c.5C>T, XM_005261798.1:c.5C>T, NM_001002877.2:c.5C>T, NM_001002877.1:c.5C>T, XM_005261797.2:c.5C>T, XM_005261797.1:c.5C>T, XM_047441558.1:c.5C>T, XM_047441559.1:c.5C>T, NM_001002878.1:c.5C>T, NM_001002879.1:c.5C>T, NP_003669.4:p.Ser2Leu, XP_006724410.1:p.Ser2Leu, XP_005261856.1:p.Ser2Leu, XP_005261855.1:p.Ser2Leu, NP_001002877.1:p.Ser2Leu, XP_005261854.1:p.Ser2Leu, XP_047297514.1:p.Ser2Leu, XP_047297515.1:p.Ser2Leu, NP_001002878.1:p.Ser2Leu, NP_001002879.1:p.Ser2Leu

Select item 147874991710.

rs1478749917 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 22:29543540 (GRCh38)
22:29939529 (GRCh37)
Canonical SPDI:: NC_000022.11:29543539:T:C
Gene:: THOC5 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.29543540T>C, NC_000022.10:g.29939529T>C, NM_003678.5:c.243A>G, NM_003678.4:c.243A>G, XM_006724347.2:c.243A>G, XM_006724347.1:c.243A>G, XM_005261799.2:c.243A>G, XM_005261799.1:c.243A>G, XM_005261798.2:c.243A>G, XM_005261798.1:c.243A>G, NM_001002877.2:c.243A>G, NM_001002877.1:c.243A>G, XM_005261797.2:c.243A>G, XM_005261797.1:c.243A>G, XM_047441558.1:c.243A>G, XM_047441559.1:c.243A>G, NM_001002878.1:c.243A>G, NM_001002879.1:c.243A>G

Select item 147858828911.

rs1478588289 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 22:29544548 (GRCh38)
22:29940537 (GRCh37)
Canonical SPDI:: NC_000022.11:29544547:T:A
Gene:: THOC5 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,missense_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_000022.11:g.29544548T>A, NC_000022.10:g.29940537T>A, NM_003678.5:c.152A>T, NM_003678.4:c.152A>T, XM_006724347.2:c.152A>T, XM_006724347.1:c.152A>T, XM_005261799.2:c.152A>T, XM_005261799.1:c.152A>T, XM_005261798.2:c.152A>T, XM_005261798.1:c.152A>T, NM_001002877.2:c.152A>T, NM_001002877.1:c.152A>T, XM_005261797.2:c.152A>T, XM_005261797.1:c.152A>T, XM_047441558.1:c.152A>T, XM_047441559.1:c.152A>T, NM_001002878.1:c.152A>T, NM_001002879.1:c.152A>T, NP_003669.4:p.Asp51Val, XP_006724410.1:p.Asp51Val, XP_005261856.1:p.Asp51Val, XP_005261855.1:p.Asp51Val, NP_001002877.1:p.Asp51Val, XP_005261854.1:p.Asp51Val, XP_047297514.1:p.Asp51Val, XP_047297515.1:p.Asp51Val, NP_001002878.1:p.Asp51Val, NP_001002879.1:p.Asp51Val

Select item 147771560212.

rs1477715602 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 22:29529221 (GRCh38)
22:29925210 (GRCh37)
Canonical SPDI:: NC_000022.11:29529220:G:C
Gene:: THOC5 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,upstream_transcript_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.29529221G>C, NC_000022.10:g.29925210G>C, NM_003678.5:c.866C>G, NM_003678.4:c.866C>G, XM_006724347.2:c.899C>G, XM_006724347.1:c.899C>G, XM_005261799.2:c.899C>G, XM_005261799.1:c.899C>G, XM_005261798.2:c.899C>G, XM_005261798.1:c.899C>G, NM_001002877.2:c.866C>G, NM_001002877.1:c.866C>G, XM_005261797.2:c.899C>G, XM_005261797.1:c.899C>G, XM_047441558.1:c.899C>G, XM_047441559.1:c.866C>G, NM_001002878.1:c.866C>G, NM_001002879.1:c.866C>G, NP_003669.4:p.Ala289Gly, XP_006724410.1:p.Ala300Gly, XP_005261856.1:p.Ala300Gly, XP_005261855.1:p.Ala300Gly, NP_001002877.1:p.Ala289Gly, XP_005261854.1:p.Ala300Gly, XP_047297514.1:p.Ala300Gly, XP_047297515.1:p.Ala289Gly, NP_001002878.1:p.Ala289Gly, NP_001002879.1:p.Ala289Gly

Select item 147538014113.

rs1475380141 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:29520043 (GRCh38)
22:29916032 (GRCh37)
Canonical SPDI:: NC_000022.11:29520042:G:A
Gene:: THOC5 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.29520043G>A, NC_000022.10:g.29916032G>A, NM_003678.5:c.1339C>T, NM_003678.4:c.1339C>T, XM_005261801.5:c.322C>T, XM_005261801.4:c.322C>T, XM_005261801.3:c.322C>T, XM_005261801.2:c.322C>T, XM_005261801.1:c.322C>T, XM_006724347.2:c.1372C>T, XM_006724347.1:c.1372C>T, XM_005261799.2:c.1372C>T, XM_005261799.1:c.1372C>T, XM_005261798.2:c.1372C>T, XM_005261798.1:c.1372C>T, NM_001002877.2:c.1339C>T, NM_001002877.1:c.1339C>T, XM_005261797.2:c.1372C>T, XM_005261797.1:c.1372C>T, XM_047441558.1:c.1372C>T, XM_047441559.1:c.1339C>T, NM_001002878.1:c.1339C>T, NM_001002879.1:c.1339C>T

Select item 147286943214.

rs1472869432 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 22:29517034 (GRCh38)
22:29913023 (GRCh37)
Canonical SPDI:: NC_000022.11:29517033:C:A
Gene:: THOC5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.29517034C>A, NC_000022.10:g.29913023C>A, NM_003678.5:c.1676G>T, NM_003678.4:c.1676G>T, XM_005261801.5:c.659G>T, XM_005261801.4:c.659G>T, XM_005261801.3:c.659G>T, XM_005261801.2:c.659G>T, XM_005261801.1:c.659G>T, XM_006724347.2:c.1709G>T, XM_006724347.1:c.1709G>T, XM_005261799.2:c.1709G>T, XM_005261799.1:c.1709G>T, XM_005261798.2:c.1709G>T, XM_005261798.1:c.1709G>T, NM_001002877.2:c.1676G>T, NM_001002877.1:c.1676G>T, XM_005261797.2:c.1709G>T, XM_005261797.1:c.1709G>T, XM_047441558.1:c.1709G>T, XM_047441559.1:c.1676G>T, NM_001002878.1:c.1676G>T, NM_001002879.1:c.1676G>T, NP_003669.4:p.Gly559Val, XP_005261858.1:p.Gly220Val, XP_006724410.1:p.Gly570Val, XP_005261856.1:p.Gly570Val, XP_005261855.1:p.Gly570Val, NP_001002877.1:p.Gly559Val, XP_005261854.1:p.Gly570Val, XP_047297514.1:p.Gly570Val, XP_047297515.1:p.Gly559Val, NP_001002878.1:p.Gly559Val, NP_001002879.1:p.Gly559Val

Select item 147245807815.

rs1472458078 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 22:29536696 (GRCh38)
22:29932685 (GRCh37)
Canonical SPDI:: NC_000022.11:29536695:C:A,NC_000022.11:29536695:C:T
Gene:: THOC5 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,missense_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
T=0.00006/1 (TOMMO)
HGVS:: NC_000022.11:g.29536696C>A, NC_000022.11:g.29536696C>T, NC_000022.10:g.29932685C>A, NC_000022.10:g.29932685C>T, NM_003678.5:c.642G>T, NM_003678.5:c.642G>A, NM_003678.4:c.642G>T, NM_003678.4:c.642G>A, XM_006724347.2:c.642G>T, XM_006724347.2:c.642G>A, XM_006724347.1:c.642G>T, XM_006724347.1:c.642G>A, XM_005261799.2:c.642G>T, XM_005261799.2:c.642G>A, XM_005261799.1:c.642G>T, XM_005261799.1:c.642G>A, XM_005261798.2:c.642G>T, XM_005261798.2:c.642G>A, XM_005261798.1:c.642G>T, XM_005261798.1:c.642G>A, NM_001002877.2:c.642G>T, NM_001002877.2:c.642G>A, NM_001002877.1:c.642G>T, NM_001002877.1:c.642G>A, XM_005261797.2:c.642G>T, XM_005261797.2:c.642G>A, XM_005261797.1:c.642G>T, XM_005261797.1:c.642G>A, XM_047441558.1:c.642G>T, XM_047441558.1:c.642G>A, XM_047441559.1:c.642G>T, XM_047441559.1:c.642G>A, NM_001002878.1:c.642G>T, NM_001002878.1:c.642G>A, NM_001002879.1:c.642G>T, NM_001002879.1:c.642G>A, NP_003669.4:p.Lys214Asn, XP_006724410.1:p.Lys214Asn, XP_005261856.1:p.Lys214Asn, XP_005261855.1:p.Lys214Asn, NP_001002877.1:p.Lys214Asn, XP_005261854.1:p.Lys214Asn, XP_047297514.1:p.Lys214Asn, XP_047297515.1:p.Lys214Asn, NP_001002878.1:p.Lys214Asn, NP_001002879.1:p.Lys214Asn

Select item 147160631116.

rs1471606311 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 22:29539375 (GRCh38)
22:29935364 (GRCh37)
Canonical SPDI:: NC_000022.11:29539374:T:A
Gene:: THOC5 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,missense_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_000022.11:g.29539375T>A, NC_000022.10:g.29935364T>A, NM_003678.5:c.554A>T, NM_003678.4:c.554A>T, XM_006724347.2:c.554A>T, XM_006724347.1:c.554A>T, XM_005261799.2:c.554A>T, XM_005261799.1:c.554A>T, XM_005261798.2:c.554A>T, XM_005261798.1:c.554A>T, NM_001002877.2:c.554A>T, NM_001002877.1:c.554A>T, XM_005261797.2:c.554A>T, XM_005261797.1:c.554A>T, XM_047441558.1:c.554A>T, XM_047441559.1:c.554A>T, NM_001002878.1:c.554A>T, NM_001002879.1:c.554A>T, NP_003669.4:p.Gln185Leu, XP_006724410.1:p.Gln185Leu, XP_005261856.1:p.Gln185Leu, XP_005261855.1:p.Gln185Leu, NP_001002877.1:p.Gln185Leu, XP_005261854.1:p.Gln185Leu, XP_047297514.1:p.Gln185Leu, XP_047297515.1:p.Gln185Leu, NP_001002878.1:p.Gln185Leu, NP_001002879.1:p.Gln185Leu

Select item 146885961317.

rs1468859613 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:29544526 (GRCh38)
22:29940515 (GRCh37)
Canonical SPDI:: NC_000022.11:29544525:G:A
Gene:: THOC5 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.29544526G>A, NC_000022.10:g.29940515G>A, NM_003678.5:c.174C>T, NM_003678.4:c.174C>T, XM_006724347.2:c.174C>T, XM_006724347.1:c.174C>T, XM_005261799.2:c.174C>T, XM_005261799.1:c.174C>T, XM_005261798.2:c.174C>T, XM_005261798.1:c.174C>T, NM_001002877.2:c.174C>T, NM_001002877.1:c.174C>T, XM_005261797.2:c.174C>T, XM_005261797.1:c.174C>T, XM_047441558.1:c.174C>T, XM_047441559.1:c.174C>T, NM_001002878.1:c.174C>T, NM_001002879.1:c.174C>T

Select item 146769300218.

rs1467693002 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:29544475 (GRCh38)
22:29940464 (GRCh37)
Canonical SPDI:: NC_000022.11:29544474:C:T
Gene:: THOC5 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,synonymous_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_000022.11:g.29544475C>T, NC_000022.10:g.29940464C>T, NM_003678.5:c.225G>A, NM_003678.4:c.225G>A, XM_006724347.2:c.225G>A, XM_006724347.1:c.225G>A, XM_005261799.2:c.225G>A, XM_005261799.1:c.225G>A, XM_005261798.2:c.225G>A, XM_005261798.1:c.225G>A, NM_001002877.2:c.225G>A, NM_001002877.1:c.225G>A, XM_005261797.2:c.225G>A, XM_005261797.1:c.225G>A, XM_047441558.1:c.225G>A, XM_047441559.1:c.225G>A, NM_001002878.1:c.225G>A, NM_001002879.1:c.225G>A

Select item 146521749019.

rs1465217490 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 22:29511106 (GRCh38)
22:29907095 (GRCh37)
Canonical SPDI:: NC_000022.11:29511105:C:A
Gene:: THOC5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.29511106C>A, NC_000022.10:g.29907095C>A, NM_003678.5:c.1988G>T, NM_003678.4:c.1988G>T, XM_005261801.5:c.971G>T, XM_005261801.4:c.971G>T, XM_005261801.3:c.971G>T, XM_005261801.2:c.971G>T, XM_005261801.1:c.971G>T, XM_006724347.2:c.2021G>T, XM_006724347.1:c.2021G>T, XM_005261799.2:c.2021G>T, XM_005261799.1:c.2021G>T, XM_005261798.2:c.2021G>T, XM_005261798.1:c.2021G>T, NM_001002877.2:c.1988G>T, NM_001002877.1:c.1988G>T, XM_005261797.2:c.2021G>T, XM_005261797.1:c.2021G>T, XM_047441558.1:c.2021G>T, XM_047441559.1:c.1988G>T, NM_001002878.1:c.1988G>T, NM_001002879.1:c.1988G>T, NP_003669.4:p.Arg663Met, XP_005261858.1:p.Arg324Met, XP_006724410.1:p.Arg674Met, XP_005261856.1:p.Arg674Met, XP_005261855.1:p.Arg674Met, NP_001002877.1:p.Arg663Met, XP_005261854.1:p.Arg674Met, XP_047297514.1:p.Arg674Met, XP_047297515.1:p.Arg663Met, NP_001002878.1:p.Arg663Met, NP_001002879.1:p.Arg663Met

Select item 146336336420.

rs1463363364 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:29528134 (GRCh38)
22:29924123 (GRCh37)
Canonical SPDI:: NC_000022.11:29528133:C:T
Gene:: THOC5 (Varview)
Functional Consequence:: 5_prime_UTR_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.29528134C>T, NC_000022.10:g.29924123C>T, NM_003678.5:c.1010G>A, NM_003678.4:c.1010G>A, XM_005261801.5:c.-8G>A, XM_005261801.4:c.-8G>A, XM_005261801.3:c.-8G>A, XM_005261801.2:c.-8G>A, XM_005261801.1:c.-8G>A, XM_006724347.2:c.1043G>A, XM_006724347.1:c.1043G>A, XM_005261799.2:c.1043G>A, XM_005261799.1:c.1043G>A, XM_005261798.2:c.1043G>A, XM_005261798.1:c.1043G>A, NM_001002877.2:c.1010G>A, NM_001002877.1:c.1010G>A, XM_005261797.2:c.1043G>A, XM_005261797.1:c.1043G>A, XM_047441558.1:c.1043G>A, XM_047441559.1:c.1010G>A, NM_001002878.1:c.1010G>A, NM_001002879.1:c.1010G>A, NP_003669.4:p.Arg337His, XP_006724410.1:p.Arg348His, XP_005261856.1:p.Arg348His, XP_005261855.1:p.Arg348His, NP_001002877.1:p.Arg337His, XP_005261854.1:p.Arg348His, XP_047297514.1:p.Arg348His, XP_047297515.1:p.Arg337His, NP_001002878.1:p.Arg337His, NP_001002879.1:p.Arg337His

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Result Filters

Clinical Significance

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Annotation

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Custom range

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Items: 1 to 20 of 578

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