HGVS | Genome Assembly |
---|---|
NC_000023.11:g.119930139T>A , CM000685.2:g.119930139T>A | GRCh38 |
NC_000023.10:g.119064102T>A , CM000685.1:g.119064102T>A | GRCh37 |
NC_000023.9:g.118948130T>A | NCBI36 |
NG_021260.1:g.18634A>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000371410.5:c.950A>T MANE Select | ENSP00000360464.3:p.Glu317Val | |
ENST00000652253.1:c.946A>T | ||
ENST00000371410.4:c.950A>T | ENSP00000360464.3:p.Glu317Val | |
ENST00000477789.5:n.1878A>T | ||
ENST00000482407.1:n.749A>T | ||
NM_024528.3:c.950A>T | NP_078804.2:p.Glu317Val | |
XM_017029842.1:c.653A>T | XP_016885331.1:p.Glu218Val | |
NM_024528.4:c.950A>T MANE Select | NP_078804.2:p.Glu317Val |