Linked Data
ClinVar Variation Id:
309731
dbSNP Id:
rs138749872
ExAC:
12:53702964 A / C
gnomAD v2:
12-53702964-A-C
gnomAD v3:
12-53309180-A-C
gnomAD v4:
12-53309180-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.53309180A>C , CM000674.2:g.53309180A>C | GRCh38 |
| NC_000012.11:g.53702964A>C , CM000674.1:g.53702964A>C | GRCh37 |
| NC_000012.10:g.51989231A>C | NCBI36 |
| NG_016775.1:g.17449T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000209873.9:c.912T>G MANE Select | ENSP00000209873.4:p.Ala304= | |
| ENST00000546393.7:n.1757T>G | ||
| ENST00000546562.6:n.1976T>G | ||
| ENST00000547238.6:n.1548T>G | ||
| ENST00000547520.6:n.906T>G | ||
| ENST00000547757.2:c.-40T>G | ENSP00000448020.2:n.-40T>G | |
| ENST00000548880.2:n.1362T>G | ||
| ENST00000548931.6:c.432T>G | ENSP00000457518.1:p.Ala144= | |
| ENST00000549450.6:n.846T>G | ||
| ENST00000552161.6:n.1868T>G | ||
| ENST00000672797.1:n.1365T>G | ||
| ENST00000672900.1:n.1710T>G | ||
| ENST00000209873.8:c.912T>G | ENSP00000209873.4:p.Ala304= | |
| ENST00000394384.7:c.813T>G | ENSP00000377908.3:p.Ala271= | |
| ENST00000546393.6:n.809T>G | ||
| ENST00000546572.1:n.364T>G | ||
| ENST00000547520.5:n.616T>G | ||
| ENST00000547757.1:c.813T>G | ENSP00000448020.1:p.Ala271= | |
| ENST00000547761.6:n.804T>G | ||
| ENST00000548931.5:c.432T>G | ENSP00000457518.1:p.Ala144= | |
| ENST00000550033.5:n.167T>G | ||
| ENST00000550286.5:c.540T>G | ENSP00000446885.1:p.Ala180= | |
| ENST00000552876.5:n.1255T>G | ||
| NM_001173466.1:c.813T>G | NP_001166937.1:p.Ala271= | |
| NM_015665.5:c.912T>G | NP_056480.1:p.Ala304= | |
| XM_006719617.2:c.927T>G | XP_006719680.1:p.Ala309= | |
| XM_006719619.2:c.927T>G | XP_006719682.1:p.Ala309= | |
| XM_011538777.1:c.927T>G | XP_011537079.1:p.Ala309= | |
| XM_011538778.1:c.912T>G | XP_011537080.1:p.Ala304= | |
| XM_011538779.1:c.828T>G | XP_011537081.1:p.Ala276= | |
| XM_011538780.1:c.813T>G | XP_011537082.1:p.Ala271= | |
| XM_011538781.1:c.261T>G | XP_011537083.1:p.Ala87= | |
| XM_011538778.2:c.912T>G | XP_011537080.1:p.Ala304= | |
| XM_011538780.2:c.813T>G | XP_011537082.1:p.Ala271= | |
| XR_001748875.2:n.933T>G | ||
| NM_015665.6:c.912T>G MANE Select | NP_056480.1:p.Ala304= | |
| NM_001173466.2:c.813T>G | NP_001166937.1:p.Ala271= |