HGVS | Genome Assembly |
---|---|
NC_000010.11:g.122506775C>G , CM000672.2:g.122506775C>G | GRCh38 |
NC_000010.10:g.124266291C>G , CM000672.1:g.124266291C>G | GRCh37 |
NC_000010.9:g.124256281C>G | NCBI36 |
NG_011554.1:g.50251C>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000368984.8:c.862C>G MANE Select | ENSP00000357980.3:p.Leu288Val | |
ENST00000648167.1:c.544C>G | ENSP00000498033.1:p.Leu182Val | |
ENST00000368984.7:c.862C>G | ENSP00000357980.3:p.Leu288Val | |
ENST00000420892.1:c.85C>G | ENSP00000412676.1:p.Leu29Val | |
NM_002775.4:c.862C>G | NP_002766.1:p.Leu288Val | |
NM_002775.5:c.862C>G MANE Select | NP_002766.1:p.Leu288Val |