Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.122461999A>T , CM000672.2:g.122461999A>T | GRCh38 |
| NC_000010.10:g.124221515A>T , CM000672.1:g.124221515A>T | GRCh37 |
| NC_000010.9:g.124211505A>T | NCBI36 |
| NG_011554.1:g.5475A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368984.8:c.347A>T MANE Select | ENSP00000357980.3:p.Glu116Val | |
| ENST00000648167.1:c.154+3290A>T | ENSP00000498033.1:n.154+3290A>T | |
| ENST00000368984.7:c.347A>T | ENSP00000357980.3:p.Glu116Val | |
| NM_002775.4:c.347A>T | NP_002766.1:p.Glu116Val | |
| NM_002775.5:c.347A>T MANE Select | NP_002766.1:p.Glu116Val |