Linked Data
dbSNP Id:
rs376830136
ExAC:
10:124266244 A / T
gnomAD v2:
10-124266244-A-T
gnomAD v3:
10-122506728-A-T
gnomAD v4:
10-122506728-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.122506728A>T , CM000672.2:g.122506728A>T | GRCh38 |
| NC_000010.10:g.124266244A>T , CM000672.1:g.124266244A>T | GRCh37 |
| NC_000010.9:g.124256234A>T | NCBI36 |
| NG_011554.1:g.50204A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368984.8:c.815A>T MANE Select | ENSP00000357980.3:p.Glu272Val | |
| ENST00000648167.1:c.497A>T | ENSP00000498033.1:p.Glu166Val | |
| ENST00000368984.7:c.815A>T | ENSP00000357980.3:p.Glu272Val | |
| ENST00000420892.1:c.38A>T | ENSP00000412676.1:p.Glu13Val | |
| NM_002775.4:c.815A>T | NP_002766.1:p.Glu272Val | |
| NM_002775.5:c.815A>T MANE Select | NP_002766.1:p.Glu272Val |