HGVS | Genome Assembly |
---|---|
NC_000010.11:g.122506745T>A , CM000672.2:g.122506745T>A | GRCh38 |
NC_000010.10:g.124266261T>A , CM000672.1:g.124266261T>A | GRCh37 |
NC_000010.9:g.124256251T>A | NCBI36 |
NG_011554.1:g.50221T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000368984.8:c.832T>A MANE Select | ENSP00000357980.3:p.Phe278Ile | |
ENST00000648167.1:c.514T>A | ENSP00000498033.1:p.Phe172Ile | |
ENST00000368984.7:c.832T>A | ENSP00000357980.3:p.Phe278Ile | |
ENST00000420892.1:c.55T>A | ENSP00000412676.1:p.Phe19Ile | |
NM_002775.4:c.832T>A | NP_002766.1:p.Phe278Ile | |
NM_002775.5:c.832T>A MANE Select | NP_002766.1:p.Phe278Ile |