HGVS | Genome Assembly |
---|---|
NC_000017.11:g.41624274A>T , CM000679.2:g.41624274A>T | GRCh38 |
NC_000017.10:g.39780526A>T , CM000679.1:g.39780526A>T | GRCh37 |
NC_000017.9:g.37034052A>T | NCBI36 |
NG_008625.1:g.5357T>A | |
NG_009090.2:g.167439T>A , LRG_401:g.167439T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000311208.13:c.236T>A MANE Select | ENSP00000308452.8:p.Leu79Gln | |
ENST00000311208.12:c.236T>A | ENSP00000308452.8:p.Leu79Gln | |
ENST00000463128.5:c.-312-68T>A | ENSP00000468672.1:n.-312-68T>A | |
ENST00000491673.1:n.302T>A | ||
ENST00000493253.5:n.23T>A | ||
ENST00000540235.5:c.31T>A | ENSP00000441751.2:p.Cys11Ser | |
ENST00000577817.3:c.191T>A | ENSP00000467418.1:p.Leu64Gln | |
NM_000422.2:c.236T>A | NP_000413.1:p.Leu79Gln | |
NM_000422.3:c.236T>A MANE Select | NP_000413.1:p.Leu79Gln |