HGVS | Genome Assembly |
---|---|
NC_000012.12:g.12717998A>C , CM000674.2:g.12717998A>C | GRCh38 |
NC_000012.11:g.12870932A>C , CM000674.1:g.12870932A>C | GRCh37 |
NC_000012.10:g.12762199A>C | NCBI36 |
NG_016341.1:g.5631A>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000614874.2:c.159A>C | ENSP00000507272.1:p.Glu53Asp | |
ENST00000682620.1:n.1631-827A>C | ||
ENST00000684771.1:n.585-827A>C | ||
ENST00000228872.9:c.159A>C MANE Select | ENSP00000228872.4:p.Glu53Asp | |
ENST00000228872.8:c.159A>C | ENSP00000228872.4:p.Glu53Asp | |
ENST00000396340.1:c.159A>C | ENSP00000379629.1:p.Glu53Asp | |
ENST00000442489.1:c.138A>C | ENSP00000407597.1:p.Glu46Asp | |
ENST00000477087.1:n.155-827A>C | ||
NM_004064.4:c.159A>C | NP_004055.1:p.Glu53Asp | |
NM_004064.5:c.159A>C MANE Select | NP_004055.1:p.Glu53Asp |