HGVS | Genome Assembly |
---|---|
NC_000003.12:g.122341446C>T , CM000665.2:g.122341446C>T | GRCh38 |
NC_000003.11:g.122060293C>T , CM000665.1:g.122060293C>T | GRCh37 |
NC_000003.10:g.123542983C>T | NCBI36 |
NG_027995.1:g.21283C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000264474.4:c.176C>T MANE Select | ENSP00000264474.3:p.Ala59Val | |
ENST00000264474.3:c.176C>T | ENSP00000264474.3:p.Ala59Val | |
NM_005213.3:c.176C>T | NP_005204.1:p.Ala59Val | |
NM_005213.4:c.176C>T MANE Select | NP_005204.1:p.Ala59Val |