HGVS | Genome Assembly |
---|---|
NC_000001.11:g.58782221C>A , CM000663.2:g.58782221C>A | GRCh38 |
NC_000001.10:g.59247893C>A , CM000663.1:g.59247893C>A | GRCh37 |
NC_000001.9:g.59020481C>A | NCBI36 |
NG_047027.1:g.6893G>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000710273.1:c.916G>T | ENSP00000518166.1:p.Val306Leu | |
ENST00000371222.4:c.850G>T MANE Select | ENSP00000360266.2:p.Val284Leu | |
ENST00000678696.1:c.850G>T | ENSP00000503132.1:p.Val284Leu | |
ENST00000371222.3:c.850G>T | ENSP00000360266.2:p.Val284Leu | |
NM_002228.3:c.850G>T | NP_002219.1:p.Val284Leu | |
NM_002228.4:c.850G>T MANE Select | NP_002219.1:p.Val284Leu |