HGVS | Genome Assembly |
---|---|
NC_000015.10:g.40935046G>A , CM000677.2:g.40935046G>A | GRCh38 |
NC_000015.9:g.41227244G>A , CM000677.1:g.41227244G>A | GRCh37 |
NC_000015.8:g.39014536G>A | NCBI36 |
NG_046974.1:g.10714G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000249749.7:c.1169G>A MANE Select | ENSP00000249749.5:p.Cys390Tyr | |
ENST00000249749.6:c.1169G>A | ENSP00000249749.5:p.Cys390Tyr | |
NM_019074.3:c.1169G>A | NP_061947.1:p.Cys390Tyr | |
NM_019074.4:c.1169G>A MANE Select | NP_061947.1:p.Cys390Tyr |