HGVS | Genome Assembly |
---|---|
NC_000001.11:g.1014201T>A , CM000663.2:g.1014201T>A | GRCh38 |
NC_000001.10:g.949581T>A , CM000663.1:g.949581T>A | GRCh37 |
NC_000001.9:g.939444T>A | NCBI36 |
NG_033033.1:g.5735T>A | |
NG_033033.2:g.18064T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000624697.4:c.197T>A | ENSP00000485643.1:p.Val66Glu | |
ENST00000649529.1:c.221T>A MANE Select | ENSP00000496832.1:p.Val74Glu | |
ENST00000379389.4:c.221T>A | ENSP00000368699.4:p.Val74Glu | |
ENST00000624652.1:c.197T>A | ENSP00000485313.1:p.Val66Glu | |
ENST00000624697.3:c.197T>A | ENSP00000485643.1:p.Val66Glu | |
NM_005101.3:c.221T>A | NP_005092.1:p.Val74Glu | |
NM_005101.4:c.221T>A MANE Select | NP_005092.1:p.Val74Glu |