HGVS | Genome Assembly |
---|---|
NC_000017.11:g.63606321G>A , CM000679.2:g.63606321G>A | GRCh38 |
NC_000017.10:g.61683681G>A , CM000679.1:g.61683681G>A | GRCh37 |
NC_000017.9:g.59037413G>A | NCBI36 |
NG_016979.1:g.10451G>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000682060.1:n.158G>A | ||
ENST00000684587.1:c.393G>A | ENSP00000507435.1:p.Lys131= | |
ENST00000690765.1:c.*222G>A | ENSP00000510085.1:n.*222G>A | |
ENST00000258975.7:c.396G>A MANE Select | ENSP00000258975.6:p.Lys132= | |
ENST00000258975.6:c.396G>A | ENSP00000258975.6:p.Lys132= | |
ENST00000581120.1:n.598G>A | ||
NM_016360.3:c.396G>A | NP_057444.2:p.Lys132= | |
NM_016360.4:c.396G>A MANE Select | NP_057444.2:p.Lys132= |