HGVS | Genome Assembly |
---|---|
NC_000001.11:g.94047055C>A , CM000663.2:g.94047055C>A | GRCh38 |
NC_000001.10:g.94512611C>A , CM000663.1:g.94512611C>A | GRCh37 |
NC_000001.9:g.94285199C>A | NCBI36 |
NG_009073.1:g.79095G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000370225.4:c.2782G>T MANE Select | ENSP00000359245.3:p.Gly928Trp | |
ENST00000649773.1:c.2560G>T | ENSP00000496882.1:p.Gly854Trp | |
ENST00000370225.3:c.2782G>T | ENSP00000359245.3:p.Gly928Trp | |
ENST00000536513.5:c.-64-6966G>T | ENSP00000439707.2:n.-64-6966G>T | |
NM_000350.2:c.2782G>T | NP_000341.2:p.Gly928Trp | |
NM_000350.3:c.2782G>T MANE Select | NP_000341.2:p.Gly928Trp |