Linked Data
dbSNP Id:
rs768335853
ExAC:
10:131565220 G / A
gnomAD v2:
10-131565220-G-A
gnomAD v4:
10-129766956-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.129766956G>A , CM000672.2:g.129766956G>A | GRCh38 |
| NC_000010.10:g.131565220G>A , CM000672.1:g.131565220G>A | GRCh37 |
| NC_000010.9:g.131455210G>A | NCBI36 |
| NG_052673.1:g.304773G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000306010.8:c.676G>A | ENSP00000302111.7:p.Ala226Thr | |
| ENST00000651593.1:c.583G>A MANE Select | ENSP00000498729.1:p.Ala195Thr | |
| ENST00000306010.7:c.676G>A | ENSP00000302111.7:p.Ala226Thr | |
| NM_002412.3:c.676G>A | NP_002403.2:p.Ala226Thr | |
| NM_002412.4:c.676G>A | NP_002403.2:p.Ala226Thr | |
| XM_005252682.2:c.583G>A | XP_005252739.1:p.Ala195Thr | |
| XM_006717863.2:c.406G>A | XP_006717926.1:p.Ala136Thr | |
| XM_011539817.1:c.592G>A | XP_011538119.1:p.Ala198Thr | |
| NM_002412.5:c.583G>A MANE Select | NP_002403.3:p.Ala195Thr | |
| XM_017016275.1:c.406G>A | XP_016871764.1:p.Ala136Thr |