HGVS | Genome Assembly |
---|---|
NC_000012.12:g.12718119C>A , CM000674.2:g.12718119C>A | GRCh38 |
NC_000012.11:g.12871053C>A , CM000674.1:g.12871053C>A | GRCh37 |
NC_000012.10:g.12762320C>A | NCBI36 |
NG_016341.1:g.5752C>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000614874.2:c.280C>A | ENSP00000507272.1:p.Pro94Thr | |
ENST00000682620.1:n.1631-706C>A | ||
ENST00000684771.1:n.585-706C>A | ||
ENST00000228872.9:c.280C>A MANE Select | ENSP00000228872.4:p.Pro94Thr | |
ENST00000228872.8:c.280C>A | ENSP00000228872.4:p.Pro94Thr | |
ENST00000396340.1:c.280C>A | ENSP00000379629.1:p.Pro94Thr | |
ENST00000442489.1:c.193+66C>A | ENSP00000407597.1:n.193+66C>A | |
ENST00000477087.1:n.155-706C>A | ||
NM_004064.4:c.280C>A | NP_004055.1:p.Pro94Thr | |
NM_004064.5:c.280C>A MANE Select | NP_004055.1:p.Pro94Thr |