HGVS | Genome Assembly |
---|---|
NC_000017.11:g.41624383C>T , CM000679.2:g.41624383C>T | GRCh38 |
NC_000017.10:g.39780635C>T , CM000679.1:g.39780635C>T | GRCh37 |
NC_000017.9:g.37034161C>T | NCBI36 |
NG_008625.1:g.5248G>A | |
NG_009090.2:g.167330G>A , LRG_401:g.167330G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000311208.13:c.127G>A MANE Select | ENSP00000308452.8:p.Gly43Arg | |
ENST00000311208.12:c.127G>A | ENSP00000308452.8:p.Gly43Arg | |
ENST00000463128.5:c.-312-177G>A | ENSP00000468672.1:n.-312-177G>A | |
ENST00000491673.1:n.193G>A | ||
ENST00000540235.5:c.-79G>A | ENSP00000441751.2:n.-79G>A | |
ENST00000577817.3:c.82G>A | ENSP00000467418.1:p.Gly28Arg | |
NM_000422.2:c.127G>A | NP_000413.1:p.Gly43Arg | |
NM_000422.3:c.127G>A MANE Select | NP_000413.1:p.Gly43Arg |