HGVS | Genome Assembly |
---|---|
NC_000010.11:g.110581985G>A , CM000672.2:g.110581985G>A | GRCh38 |
NC_000010.10:g.112341743G>A , CM000672.1:g.112341743G>A | GRCh37 |
NC_000010.9:g.112331733G>A | NCBI36 |
NG_012217.1:g.19295G>A , LRG_774:g.19295G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000684988.1:n.743G>A | ||
ENST00000687823.1:n.524G>A | ||
ENST00000689932.1:n.2673G>A | ||
ENST00000691297.1:n.743G>A | ||
ENST00000691527.1:n.1413G>A | ||
ENST00000692792.1:n.729G>A | ||
ENST00000361804.5:c.610G>A MANE Select | ENSP00000354720.5:p.Glu204Lys | |
ENST00000361804.4:c.610G>A | ENSP00000354720.4:p.Glu204Lys | |
ENST00000462899.1:n.756G>A | ||
NM_005445.3:c.610G>A , LRG_774t1:c.610G>A | NP_005436.1:p.Glu204Lys | |
NM_005445.4:c.610G>A MANE Select | NP_005436.1:p.Glu204Lys |