HGVS | Genome Assembly |
---|---|
NC_000024.10:g.631017G>A , CM000686.2:g.631017G>A | GRCh38 |
NC_000024.9:g.541752G>A , CM000686.1:g.541752G>A | GRCh37 |
NC_000024.8:g.511752G>A | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000711141.1:c.120G>A | ENSP00000518639.1:p.Glu40= | |
ENST00000711142.1:c.120G>A | ENSP00000518640.1:p.Glu40= | |
ENST00000711143.1:c.120G>A | ENSP00000518641.1:p.Glu40= | |
ENST00000711145.1:c.120G>A | ENSP00000518642.1:p.Glu40= |