HGVS | Genome Assembly |
---|---|
NC_000021.9:g.43172108G>A , CM000683.2:g.43172108G>A | GRCh38 |
NG_009823.1:g.8078G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000291554.6:c.350G>A MANE Select | ENSP00000291554.2:p.Arg117His | |
ENST00000398132.1:c.239G>A | ENSP00000381200.1:p.Arg80His | |
ENST00000398133.5:c.290G>A | ENSP00000381201.1:p.Arg97His | |
ENST00000468016.1:n.451G>A | ||
ENST00000482775.1:n.431G>A | ||
NM_000394.3:c.350G>A | NP_000385.1:p.Arg117His | |
XM_005261093.2:c.239G>A | XP_005261150.1:p.Arg80His | |
NM_001363766.1:c.239G>A | NP_001350695.1:p.Arg80His | |
NM_000394.4:c.350G>A MANE Select | NP_000385.1:p.Arg117His |