HGVS | Genome Assembly |
---|---|
NC_000010.11:g.122506777T>A , CM000672.2:g.122506777T>A | GRCh38 |
NC_000010.10:g.124266293T>A , CM000672.1:g.124266293T>A | GRCh37 |
NC_000010.9:g.124256283T>A | NCBI36 |
NG_011554.1:g.50253T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000368984.8:c.864T>A MANE Select | ENSP00000357980.3:p.Leu288= | |
ENST00000648167.1:c.546T>A | ENSP00000498033.1:p.Leu182= | |
ENST00000368984.7:c.864T>A | ENSP00000357980.3:p.Leu288= | |
ENST00000420892.1:c.87T>A | ENSP00000412676.1:p.Leu29= | |
NM_002775.4:c.864T>A | NP_002766.1:p.Leu288= | |
NM_002775.5:c.864T>A MANE Select | NP_002766.1:p.Leu288= |