HGVS | Genome Assembly |
---|---|
NC_000010.11:g.122508741T>G , CM000672.2:g.122508741T>G | GRCh38 |
NC_000010.10:g.124268257T>G , CM000672.1:g.124268257T>G | GRCh37 |
NC_000010.9:g.124258247T>G | NCBI36 |
NG_011554.1:g.52217T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000368984.8:c.1091T>G MANE Select | ENSP00000357980.3:p.Leu364Arg | |
ENST00000648167.1:c.773T>G | ENSP00000498033.1:p.Leu258Arg | |
ENST00000368984.7:c.1091T>G | ENSP00000357980.3:p.Leu364Arg | |
ENST00000420892.1:c.314T>G | ENSP00000412676.1:p.Leu105Arg | |
NM_002775.4:c.1091T>G | NP_002766.1:p.Leu364Arg | |
NM_002775.5:c.1091T>G MANE Select | NP_002766.1:p.Leu364Arg |