HGVS | Genome Assembly |
---|---|
NC_000001.11:g.6112218C>T , CM000663.2:g.6112218C>T | GRCh38 |
NC_000001.10:g.6172278C>T , CM000663.1:g.6172278C>T | GRCh37 |
NC_000001.9:g.6094865C>T | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000262450.8:c.5062G>A MANE Select | ENSP00000262450.3:p.Glu1688Lys | |
ENST00000262450.7:c.5062G>A | ENSP00000262450.3:p.Glu1688Lys | |
ENST00000377999.5:c.1965G>A | ENSP00000367238.2:n.1965G>A | |
ENST00000462991.5:c.3315G>A | ||
ENST00000496404.1:c.3780G>A | ENSP00000433676.1:n.3780G>A | |
NM_015557.2:c.5062G>A | NP_056372.1:p.Glu1688Lys | |
NM_015557.3:c.5062G>A MANE Select | NP_056372.1:p.Glu1688Lys |