HGVS | Genome Assembly |
---|---|
NC_000006.12:g.132571193G>A , CM000668.2:g.132571193G>A | GRCh38 |
NC_000006.11:g.132892332G>A , CM000668.1:g.132892332G>A | GRCh37 |
NC_000006.10:g.132934025G>A | NCBI36 |
NG_016544.1:g.5872G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000275198.1:c.872G>A MANE Select | ENSP00000275198.1:p.Cys291Tyr | |
NM_175067.1:c.872G>A MANE Select | NP_778237.1:p.Cys291Tyr |