HGVS | Genome Assembly |
---|---|
NC_000001.11:g.160881985G>T , CM000663.2:g.160881985G>T | GRCh38 |
NC_000001.10:g.160851775G>T , CM000663.1:g.160851775G>T | GRCh37 |
NC_000001.9:g.159118399G>T | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000326245.4:c.377C>A MANE Select | ENSP00000323587.3:p.Ala126Glu | |
ENST00000326245.3:c.377C>A | ENSP00000323587.3:p.Ala126Glu | |
ENST00000464077.1:n.311C>A | ||
NM_017625.2:c.377C>A | NP_060095.2:p.Ala126Glu | |
NM_017625.3:c.377C>A MANE Select | NP_060095.2:p.Ala126Glu |