HGVS | Genome Assembly |
---|---|
NC_000023.11:g.119930161C>A , CM000685.2:g.119930161C>A | GRCh38 |
NC_000023.10:g.119064124C>A , CM000685.1:g.119064124C>A | GRCh37 |
NC_000023.9:g.118948152C>A | NCBI36 |
NG_021260.1:g.18612G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000371410.5:c.928G>T MANE Select | ENSP00000360464.3:p.Gly310Cys | |
ENST00000652253.1:c.924G>T | ||
ENST00000371410.4:c.928G>T | ENSP00000360464.3:p.Gly310Cys | |
ENST00000477789.5:n.1856G>T | ||
ENST00000482407.1:n.727G>T | ||
NM_024528.3:c.928G>T | NP_078804.2:p.Gly310Cys | |
XM_017029842.1:c.631G>T | XP_016885331.1:p.Gly211Cys | |
NM_024528.4:c.928G>T MANE Select | NP_078804.2:p.Gly310Cys |