Linked Data
ClinVar Variation Id:
1306590
ClinVar RCV Id:
RCV001770770
dbSNP Id:
rs1406490086
gnomAD v2:
10-131639288-T-C
gnomAD v4:
10-129841024-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.129841024T>C , CM000672.2:g.129841024T>C | GRCh38 |
| NC_000010.10:g.131639288T>C , CM000672.1:g.131639288T>C | GRCh37 |
| NC_000010.9:g.131529278T>C | NCBI36 |
| NG_030038.1:g.127804A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355311.10:c.1381A>G | ENSP00000347463.4:p.Ser461Gly | |
| ENST00000368648.8:c.1354A>G | ENSP00000357637.3:p.Ser452Gly | |
| ENST00000440978.2:c.1381A>G MANE Select | ENSP00000387543.2:p.Ser461Gly | |
| ENST00000675373.1:n.1026A>G | ||
| ENST00000355311.9:c.1381A>G | ENSP00000347463.4:p.Ser461Gly | |
| ENST00000368648.7:c.1354A>G | ENSP00000357637.3:p.Ser452Gly | |
| ENST00000440978.1:c.65A>G | ||
| NM_001005463.2:c.1354A>G | NP_001005463.1:p.Ser452Gly | |
| XM_005252667.2:c.1354A>G | XP_005252724.1:p.Ser452Gly | |
| XM_005252668.2:c.1381A>G | XP_005252725.1:p.Ser461Gly | |
| XM_005252669.2:c.1354A>G | XP_005252726.1:p.Ser452Gly | |
| XM_006717739.2:c.1381A>G | XP_006717802.1:p.Ser461Gly | |
| XM_006717740.2:c.1381A>G | XP_006717803.1:p.Ser461Gly | |
| XM_006717741.2:c.1381A>G | XP_006717804.1:p.Ser461Gly | |
| XM_006717742.2:c.1381A>G | XP_006717805.1:p.Ser461Gly | |
| XM_006717743.2:c.1381A>G | XP_006717806.1:p.Ser461Gly | |
| XM_006717744.2:c.1373-690A>G | XP_006717807.1:n.1373-690A>G | |
| XM_011539574.1:c.1096A>G | XP_011537876.1:p.Ser366Gly | |
| XM_011539575.1:c.865A>G | XP_011537877.1:p.Ser289Gly | |
| XM_005252667.3:c.1354A>G | XP_005252724.1:p.Ser452Gly | |
| XM_005252668.3:c.1381A>G | XP_005252725.1:p.Ser461Gly | |
| XM_005252669.3:c.1354A>G | XP_005252726.1:p.Ser452Gly | |
| XM_006717739.3:c.1381A>G | XP_006717802.1:p.Ser461Gly | |
| XM_006717740.3:c.1381A>G | XP_006717803.1:p.Ser461Gly | |
| XM_006717741.3:c.1381A>G | XP_006717804.1:p.Ser461Gly | |
| XM_006717742.3:c.1381A>G | XP_006717805.1:p.Ser461Gly | |
| XM_006717743.3:c.1381A>G | XP_006717806.1:p.Ser461Gly | |
| XM_006717744.3:c.1373-690A>G | XP_006717807.1:n.1373-690A>G | |
| XM_011539574.2:c.1096A>G | XP_011537876.1:p.Ser366Gly | |
| XM_011539575.2:c.865A>G | XP_011537877.1:p.Ser289Gly | |
| XM_017016027.1:c.1373-690A>G | XP_016871516.1:n.1373-690A>G | |
| XR_001747076.1:n.1860A>G | ||
| NM_001005463.3:c.1354A>G | NP_001005463.1:p.Ser452Gly | |
| NM_001375379.1:c.1381A>G | NP_001362308.1:p.Ser461Gly | |
| NM_001375380.1:c.1381A>G MANE Select | NP_001362309.1:p.Ser461Gly | |
| NM_001375389.1:c.1381A>G | NP_001362318.1:p.Ser461Gly | |
| NM_001375390.1:c.1354A>G | NP_001362319.1:p.Ser452Gly | |
| NM_001375391.1:c.1381A>G | NP_001362320.1:p.Ser461Gly | |
| NM_001375392.1:c.1346-582A>G | NP_001362321.1:n.1346-582A>G |