HGVS | Genome Assembly |
---|---|
NC_000004.12:g.4860294T>A , CM000666.2:g.4860294T>A | GRCh38 |
NC_000004.11:g.4862021T>A , CM000666.1:g.4862021T>A | GRCh37 |
NC_000004.10:g.4912922T>A | NCBI36 |
NG_008121.1:g.5630T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000382723.5:c.395T>A MANE Select | ENSP00000372170.4:p.Val132Asp | |
ENST00000382723.4:c.395T>A | ENSP00000372170.4:p.Val132Asp | |
NM_002448.3:c.395T>A MANE Select | NP_002439.2:p.Val132Asp |