HGVS | Genome Assembly |
---|---|
NC_000010.11:g.122461899T>A , CM000672.2:g.122461899T>A | GRCh38 |
NC_000010.10:g.124221415T>A , CM000672.1:g.124221415T>A | GRCh37 |
NC_000010.9:g.124211405T>A | NCBI36 |
NG_011554.1:g.5375T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000368984.8:c.247T>A MANE Select | ENSP00000357980.3:p.Cys83Ser | |
ENST00000648167.1:c.154+3190T>A | ENSP00000498033.1:n.154+3190T>A | |
ENST00000368984.7:c.247T>A | ENSP00000357980.3:p.Cys83Ser | |
NM_002775.4:c.247T>A | NP_002766.1:p.Cys83Ser | |
NM_002775.5:c.247T>A MANE Select | NP_002766.1:p.Cys83Ser |