HGVS | Genome Assembly |
---|---|
NC_000023.11:g.119930133G>T , CM000685.2:g.119930133G>T | GRCh38 |
NC_000023.10:g.119064096G>T , CM000685.1:g.119064096G>T | GRCh37 |
NC_000023.9:g.118948124G>T | NCBI36 |
NG_021260.1:g.18640C>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000371410.5:c.956C>A MANE Select | ENSP00000360464.3:p.Ala319Glu | |
ENST00000652253.1:c.952C>A | ||
ENST00000371410.4:c.956C>A | ENSP00000360464.3:p.Ala319Glu | |
ENST00000477789.5:n.1884C>A | ||
ENST00000482407.1:n.755C>A | ||
NM_024528.3:c.956C>A | NP_078804.2:p.Ala319Glu | |
XM_017029842.1:c.659C>A | XP_016885331.1:p.Ala220Glu | |
NM_024528.4:c.956C>A MANE Select | NP_078804.2:p.Ala319Glu |