HGVS | Genome Assembly |
---|---|
NC_000001.11:g.58782628G>A , CM000663.2:g.58782628G>A | GRCh38 |
NC_000001.10:g.59248300G>A , CM000663.1:g.59248300G>A | GRCh37 |
NC_000001.9:g.59020888G>A | NCBI36 |
NG_047027.1:g.6486C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000710273.1:c.509C>T | ENSP00000518166.1:p.Ala170Val | |
ENST00000371222.4:c.443C>T MANE Select | ENSP00000360266.2:p.Ala148Val | |
ENST00000678696.1:c.443C>T | ENSP00000503132.1:p.Ala148Val | |
ENST00000371222.3:c.443C>T | ENSP00000360266.2:p.Ala148Val | |
NM_002228.3:c.443C>T | NP_002219.1:p.Ala148Val | |
NM_002228.4:c.443C>T MANE Select | NP_002219.1:p.Ala148Val |