HGVS | Genome Assembly |
---|---|
NC_000013.11:g.38784703G>A , CM000675.2:g.38784703G>A | GRCh38 |
NC_000013.10:g.39358840G>A , CM000675.1:g.39358840G>A | GRCh37 |
NC_000013.9:g.38256840G>A | NCBI36 |
NG_008125.2:g.102668G>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000280481.9:c.5914G>A MANE Select | ENSP00000280481.7:p.Glu1972Lys | |
ENST00000280481.8:c.5914G>A | ENSP00000280481.7:p.Glu1972Lys | |
NM_207361.5:c.5914G>A | NP_997244.4:p.Glu1972Lys | |
XM_011535057.1:c.5914G>A | XP_011533359.1:p.Glu1972Lys | |
XR_941571.1:n.6222G>A | ||
XR_941571.2:n.6218G>A | ||
NM_207361.6:c.5914G>A MANE Select | NP_997244.4:p.Glu1972Lys |