SNP Links for Protein (Select 1016563101) - SNP

Links from Protein

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Select item 14900075711.

rs1490007571 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 13:72763492 (GRCh38)
13:73337630 (GRCh37)
Canonical SPDI:: NC_000013.11:72763491:G:A
Gene:: DIS3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: A=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.72763492G>A, NC_000013.10:g.73337630G>A, NM_014953.5:c.2086C>T, NM_014953.4:c.2086C>T, NM_014953.3:c.2086C>T, NM_001128226.3:c.1996C>T, NM_001128226.2:c.1996C>T, NM_001128226.1:c.1996C>T, NM_001322349.2:c.1600C>T, NM_001322349.1:c.1600C>T, NM_001322348.2:c.1717C>T, NM_001322348.1:c.1717C>T, NP_055768.3:p.Pro696Ser, NP_001121698.1:p.Pro666Ser, NP_001309278.1:p.Pro534Ser, NP_001309277.1:p.Pro573Ser

Select item 14898708752.

rs1489870875 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 13:72761998 (GRCh38)
13:73336136 (GRCh37)
Canonical SPDI:: NC_000013.11:72761997:G:A,NC_000013.11:72761997:G:C
Gene:: DIS3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.72761998G>A, NC_000013.11:g.72761998G>C, NC_000013.10:g.73336136G>A, NC_000013.10:g.73336136G>C, NM_014953.5:c.2267C>T, NM_014953.5:c.2267C>G, NM_014953.4:c.2267C>T, NM_014953.4:c.2267C>G, NM_014953.3:c.2267C>T, NM_014953.3:c.2267C>G, NM_001128226.3:c.2177C>T, NM_001128226.3:c.2177C>G, NM_001128226.2:c.2177C>T, NM_001128226.2:c.2177C>G, NM_001128226.1:c.2177C>T, NM_001128226.1:c.2177C>G, NM_001322349.2:c.1781C>T, NM_001322349.2:c.1781C>G, NM_001322349.1:c.1781C>T, NM_001322349.1:c.1781C>G, NM_001322348.2:c.1898C>T, NM_001322348.2:c.1898C>G, NM_001322348.1:c.1898C>T, NM_001322348.1:c.1898C>G, NP_055768.3:p.Ser756Phe, NP_055768.3:p.Ser756Cys, NP_001121698.1:p.Ser726Phe, NP_001121698.1:p.Ser726Cys, NP_001309278.1:p.Ser594Phe, NP_001309278.1:p.Ser594Cys, NP_001309277.1:p.Ser633Phe, NP_001309277.1:p.Ser633Cys

Select item 14892218303.

rs1489221830 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 13:72773804 (GRCh38)
13:73347942 (GRCh37)
Canonical SPDI:: NC_000013.11:72773803:A:C
Gene:: DIS3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000015/4 (TOPMED)
HGVS:: NC_000013.11:g.72773804A>C, NC_000013.10:g.73347942A>C, NM_014953.5:c.1119T>G, NM_014953.4:c.1119T>G, NM_014953.3:c.1119T>G, NM_001128226.3:c.1029T>G, NM_001128226.2:c.1029T>G, NM_001128226.1:c.1029T>G, NM_001322349.2:c.633T>G, NM_001322349.1:c.633T>G, NM_001322348.2:c.750T>G, NM_001322348.1:c.750T>G, NP_055768.3:p.Phe373Leu, NP_001121698.1:p.Phe343Leu, NP_001309278.1:p.Phe211Leu, NP_001309277.1:p.Phe250Leu

Select item 14885507264.

rs1488550726 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 13:72770943 (GRCh38)
13:73345081 (GRCh37)
Canonical SPDI:: NC_000013.11:72770942:G:A,NC_000013.11:72770942:G:C
Gene:: DIS3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
C=0.000071/1 (TOMMO)
HGVS:: NC_000013.11:g.72770943G>A, NC_000013.11:g.72770943G>C, NC_000013.10:g.73345081G>A, NC_000013.10:g.73345081G>C, NM_014953.5:c.1716C>T, NM_014953.5:c.1716C>G, NM_014953.4:c.1716C>T, NM_014953.4:c.1716C>G, NM_014953.3:c.1716C>T, NM_014953.3:c.1716C>G, NM_001128226.3:c.1626C>T, NM_001128226.3:c.1626C>G, NM_001128226.2:c.1626C>T, NM_001128226.2:c.1626C>G, NM_001128226.1:c.1626C>T, NM_001128226.1:c.1626C>G, NM_001322349.2:c.1230C>T, NM_001322349.2:c.1230C>G, NM_001322349.1:c.1230C>T, NM_001322349.1:c.1230C>G, NM_001322348.2:c.1347C>T, NM_001322348.2:c.1347C>G, NM_001322348.1:c.1347C>T, NM_001322348.1:c.1347C>G, NP_055768.3:p.Ile572Met, NP_001121698.1:p.Ile542Met, NP_001309278.1:p.Ile410Met, NP_001309277.1:p.Ile449Met

Select item 14871116315.

rs1487111631 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 13:72761924 (GRCh38)
13:73336062 (GRCh37)
Canonical SPDI:: NC_000013.11:72761923:T:A
Gene:: DIS3 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000013.11:g.72761924T>A, NC_000013.10:g.73336062T>A, NM_014953.5:c.2341A>T, NM_014953.4:c.2341A>T, NM_014953.3:c.2341A>T, NM_001128226.3:c.2251A>T, NM_001128226.2:c.2251A>T, NM_001128226.1:c.2251A>T, NM_001322349.2:c.1855A>T, NM_001322349.1:c.1855A>T, NM_001322348.2:c.1972A>T, NM_001322348.1:c.1972A>T, NP_055768.3:p.Arg781Ter, NP_001121698.1:p.Arg751Ter, NP_001309278.1:p.Arg619Ter, NP_001309277.1:p.Arg658Ter

Select item 14869840976.

rs1486984097 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 13:72775298 (GRCh38)
13:73349436 (GRCh37)
Canonical SPDI:: NC_000013.11:72775297:A:G
Gene:: DIS3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
HGVS:: NC_000013.11:g.72775298A>G, NC_000013.10:g.73349436A>G, NM_014953.5:c.900T>C, NM_014953.4:c.900T>C, NM_014953.3:c.900T>C, NM_001128226.3:c.810T>C, NM_001128226.2:c.810T>C, NM_001128226.1:c.810T>C, NM_001322349.2:c.414T>C, NM_001322349.1:c.414T>C, NM_001322348.2:c.531T>C, NM_001322348.1:c.531T>C

Select item 14851554567.

rs1485155456 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 13:72761691 (GRCh38)
13:73335829 (GRCh37)
Canonical SPDI:: NC_000013.11:72761690:T:C
Gene:: DIS3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000013.11:g.72761691T>C, NC_000013.10:g.73335829T>C, NM_014953.5:c.2466A>G, NM_014953.4:c.2466A>G, NM_014953.3:c.2466A>G, NM_001128226.3:c.2376A>G, NM_001128226.2:c.2376A>G, NM_001128226.1:c.2376A>G, NM_001322349.2:c.1980A>G, NM_001322349.1:c.1980A>G, NM_001322348.2:c.2097A>G, NM_001322348.1:c.2097A>G

Select item 14830507098.

rs1483050709 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 13:72771143 (GRCh38)
13:73345281 (GRCh37)
Canonical SPDI:: NC_000013.11:72771142:C:T
Gene:: DIS3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.72771143C>T, NC_000013.10:g.73345281C>T, NM_014953.5:c.1608G>A, NM_014953.4:c.1608G>A, NM_014953.3:c.1608G>A, NM_001128226.3:c.1518G>A, NM_001128226.2:c.1518G>A, NM_001128226.1:c.1518G>A, NM_001322349.2:c.1122G>A, NM_001322349.1:c.1122G>A, NM_001322348.2:c.1239G>A, NM_001322348.1:c.1239G>A

Select item 14814887489.

rs1481488748 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 13:72766056 (GRCh38)
13:73340194 (GRCh37)
Canonical SPDI:: NC_000013.11:72766055:G:C
Gene:: DIS3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.72766056G>C, NC_000013.10:g.73340194G>C, NM_014953.5:c.1886C>G, NM_014953.4:c.1886C>G, NM_014953.3:c.1886C>G, NM_001128226.3:c.1796C>G, NM_001128226.2:c.1796C>G, NM_001128226.1:c.1796C>G, NM_001322349.2:c.1400C>G, NM_001322349.1:c.1400C>G, NM_001322348.2:c.1517C>G, NM_001322348.1:c.1517C>G, NP_055768.3:p.Ala629Gly, NP_001121698.1:p.Ala599Gly, NP_001309278.1:p.Ala467Gly, NP_001309277.1:p.Ala506Gly

Select item 148145782110.

rs1481457821 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 13:72761805 (GRCh38)
13:73335943 (GRCh37)
Canonical SPDI:: NC_000013.11:72761804:A:G
Gene:: DIS3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
G=0.000019/5 (TOPMED)
HGVS:: NC_000013.11:g.72761805A>G, NC_000013.10:g.73335943A>G, NM_014953.5:c.2352T>C, NM_014953.4:c.2352T>C, NM_014953.3:c.2352T>C, NM_001128226.3:c.2262T>C, NM_001128226.2:c.2262T>C, NM_001128226.1:c.2262T>C, NM_001322349.2:c.1866T>C, NM_001322349.1:c.1866T>C, NM_001322348.2:c.1983T>C, NM_001322348.1:c.1983T>C

Select item 148108639411.

rs1481086394 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 13:72766052 (GRCh38)
13:73340190 (GRCh37)
Canonical SPDI:: NC_000013.11:72766051:C:T
Gene:: DIS3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.72766052C>T, NC_000013.10:g.73340190C>T, NM_014953.5:c.1890G>A, NM_014953.4:c.1890G>A, NM_014953.3:c.1890G>A, NM_001128226.3:c.1800G>A, NM_001128226.2:c.1800G>A, NM_001128226.1:c.1800G>A, NM_001322349.2:c.1404G>A, NM_001322349.1:c.1404G>A, NM_001322348.2:c.1521G>A, NM_001322348.1:c.1521G>A

Select item 147953782912.

rs1479537829 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 13:72761967 (GRCh38)
13:73336105 (GRCh37)
Canonical SPDI:: NC_000013.11:72761966:G:A
Gene:: DIS3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.72761967G>A, NC_000013.10:g.73336105G>A, NM_014953.5:c.2298C>T, NM_014953.4:c.2298C>T, NM_014953.3:c.2298C>T, NM_001128226.3:c.2208C>T, NM_001128226.2:c.2208C>T, NM_001128226.1:c.2208C>T, NM_001322349.2:c.1812C>T, NM_001322349.1:c.1812C>T, NM_001322348.2:c.1929C>T, NM_001322348.1:c.1929C>T

Select item 147940688113.

rs1479406881 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 13:72760569 (GRCh38)
13:73334707 (GRCh37)
Canonical SPDI:: NC_000013.11:72760568:A:G
Gene:: DIS3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000013.11:g.72760569A>G, NC_000013.10:g.73334707A>G, NM_014953.5:c.2753T>C, NM_014953.4:c.2753T>C, NM_014953.3:c.2753T>C, NM_001128226.3:c.2663T>C, NM_001128226.2:c.2663T>C, NM_001128226.1:c.2663T>C, NM_001322349.2:c.2267T>C, NM_001322349.1:c.2267T>C, NM_001322348.2:c.2384T>C, NM_001322348.1:c.2384T>C, NP_055768.3:p.Leu918Pro, NP_001121698.1:p.Leu888Pro, NP_001309278.1:p.Leu756Pro, NP_001309277.1:p.Leu795Pro

Select item 147906208614.

rs1479062086 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 13:72761513 (GRCh38)
13:73335651 (GRCh37)
Canonical SPDI:: NC_000013.11:72761512:G:A
Gene:: DIS3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.72761513G>A, NC_000013.10:g.73335651G>A, NM_014953.5:c.2520C>T, NM_014953.4:c.2520C>T, NM_014953.3:c.2520C>T, NM_001128226.3:c.2430C>T, NM_001128226.2:c.2430C>T, NM_001128226.1:c.2430C>T, NM_001322349.2:c.2034C>T, NM_001322349.1:c.2034C>T, NM_001322348.2:c.2151C>T, NM_001322348.1:c.2151C>T

Select item 147570604415.

rs1475706044 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 13:72762023 (GRCh38)
13:73336161 (GRCh37)
Canonical SPDI:: NC_000013.11:72762022:T:C
Gene:: DIS3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.72762023T>C, NC_000013.10:g.73336161T>C, NM_014953.5:c.2242A>G, NM_014953.4:c.2242A>G, NM_014953.3:c.2242A>G, NM_001128226.3:c.2152A>G, NM_001128226.2:c.2152A>G, NM_001128226.1:c.2152A>G, NM_001322349.2:c.1756A>G, NM_001322349.1:c.1756A>G, NM_001322348.2:c.1873A>G, NM_001322348.1:c.1873A>G, NP_055768.3:p.Met748Val, NP_001121698.1:p.Met718Val, NP_001309278.1:p.Met586Val, NP_001309277.1:p.Met625Val

Select item 147374836116.

rs1473748361 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 13:72760555 (GRCh38)
13:73334693 (GRCh37)
Canonical SPDI:: NC_000013.11:72760554:T:G
Gene:: DIS3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.72760555T>G, NC_000013.10:g.73334693T>G, NM_014953.5:c.2767A>C, NM_014953.4:c.2767A>C, NM_014953.3:c.2767A>C, NM_001128226.3:c.2677A>C, NM_001128226.2:c.2677A>C, NM_001128226.1:c.2677A>C, NM_001322349.2:c.2281A>C, NM_001322349.1:c.2281A>C, NM_001322348.2:c.2398A>C, NM_001322348.1:c.2398A>C, NP_055768.3:p.Ile923Leu, NP_001121698.1:p.Ile893Leu, NP_001309278.1:p.Ile761Leu, NP_001309277.1:p.Ile800Leu

Select item 147204738317.

rs1472047383 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G,T [Show Flanks]
Chromosome:: 13:72777434 (GRCh38)
13:73351572 (GRCh37)
Canonical SPDI:: NC_000013.11:72777433:A:C,NC_000013.11:72777433:A:G,NC_000013.11:72777433:A:T
Gene:: DIS3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000013.11:g.72777434A>C, NC_000013.11:g.72777434A>G, NC_000013.11:g.72777434A>T, NC_000013.10:g.73351572A>C, NC_000013.10:g.73351572A>G, NC_000013.10:g.73351572A>T, NG_053118.1:g.411A>C, NG_053118.1:g.411A>G, NG_053118.1:g.411A>T, NM_014953.5:c.640T>G, NM_014953.5:c.640T>C, NM_014953.5:c.640T>A, NM_014953.4:c.640T>G, NM_014953.4:c.640T>C, NM_014953.4:c.640T>A, NM_014953.3:c.640T>G, NM_014953.3:c.640T>C, NM_014953.3:c.640T>A, NM_001128226.3:c.550T>G, NM_001128226.3:c.550T>C, NM_001128226.3:c.550T>A, NM_001128226.2:c.550T>G, NM_001128226.2:c.550T>C, NM_001128226.2:c.550T>A, NM_001128226.1:c.550T>G, NM_001128226.1:c.550T>C, NM_001128226.1:c.550T>A, NM_001322349.2:c.154T>G, NM_001322349.2:c.154T>C, NM_001322349.2:c.154T>A, NM_001322349.1:c.154T>G, NM_001322349.1:c.154T>C, NM_001322349.1:c.154T>A, NM_001322348.2:c.271T>G, NM_001322348.2:c.271T>C, NM_001322348.2:c.271T>A, NM_001322348.1:c.271T>G, NM_001322348.1:c.271T>C, NM_001322348.1:c.271T>A, NP_055768.3:p.Leu214Val, NP_055768.3:p.Leu214Met, NP_001121698.1:p.Leu184Val, NP_001121698.1:p.Leu184Met, NP_001309278.1:p.Leu52Val, NP_001309278.1:p.Leu52Met, NP_001309277.1:p.Leu91Val, NP_001309277.1:p.Leu91Met

Select item 147187761318.

rs1471877613 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 13:72777483 (GRCh38)
13:73351621 (GRCh37)
Canonical SPDI:: NC_000013.11:72777482:A:G
Gene:: DIS3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000013.11:g.72777483A>G, NC_000013.10:g.73351621A>G, NG_053118.1:g.460A>G, NM_014953.5:c.591T>C, NM_014953.4:c.591T>C, NM_014953.3:c.591T>C, NM_001128226.3:c.501T>C, NM_001128226.2:c.501T>C, NM_001128226.1:c.501T>C, NM_001322349.2:c.105T>C, NM_001322349.1:c.105T>C, NM_001322348.2:c.222T>C, NM_001322348.1:c.222T>C

Select item 146945318819.

rs1469453188 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 13:72770965 (GRCh38)
13:73345103 (GRCh37)
Canonical SPDI:: NC_000013.11:72770964:T:C
Gene:: DIS3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_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_000013.11:g.72770965T>C, NC_000013.10:g.73345103T>C, NM_014953.5:c.1694A>G, NM_014953.4:c.1694A>G, NM_014953.3:c.1694A>G, NM_001128226.3:c.1604A>G, NM_001128226.2:c.1604A>G, NM_001128226.1:c.1604A>G, NM_001322349.2:c.1208A>G, NM_001322349.1:c.1208A>G, NM_001322348.2:c.1325A>G, NM_001322348.1:c.1325A>G, NP_055768.3:p.Glu565Gly, NP_001121698.1:p.Glu535Gly, NP_001309278.1:p.Glu403Gly, NP_001309277.1:p.Glu442Gly

Select item 146820010020.

rs1468200100 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 13:72775990 (GRCh38)
13:73350128 (GRCh37)
Canonical SPDI:: NC_000013.11:72775989:C:T
Gene:: DIS3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000013.11:g.72775990C>T, NC_000013.10:g.73350128C>T, NM_014953.5:c.757G>A, NM_014953.4:c.757G>A, NM_014953.3:c.757G>A, NM_001128226.3:c.667G>A, NM_001128226.2:c.667G>A, NM_001128226.1:c.667G>A, NM_001322349.2:c.271G>A, NM_001322349.1:c.271G>A, NM_001322348.2:c.388G>A, NM_001322348.1:c.388G>A, NP_055768.3:p.Ala253Thr, NP_001121698.1:p.Ala223Thr, NP_001309278.1:p.Ala91Thr, NP_001309277.1:p.Ala130Thr

dbSNP

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