HGVS | Genome Assembly |
---|---|
NC_000012.12:g.12717978A>C , CM000674.2:g.12717978A>C | GRCh38 |
NC_000012.11:g.12870912A>C , CM000674.1:g.12870912A>C | GRCh37 |
NC_000012.10:g.12762179A>C | NCBI36 |
NG_016341.1:g.5611A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000614874.2:c.139A>C | ENSP00000507272.1:p.Lys47Gln | |
ENST00000682620.1:n.1631-847A>C | ||
ENST00000684771.1:n.585-847A>C | ||
ENST00000228872.9:c.139A>C MANE Select | ENSP00000228872.4:p.Lys47Gln | |
ENST00000228872.8:c.139A>C | ENSP00000228872.4:p.Lys47Gln | |
ENST00000396340.1:c.139A>C | ENSP00000379629.1:p.Lys47Gln | |
ENST00000442489.1:c.118A>C | ENSP00000407597.1:p.Lys40Gln | |
ENST00000477087.1:n.155-847A>C | ||
NM_004064.4:c.139A>C | NP_004055.1:p.Lys47Gln | |
NM_004064.5:c.139A>C MANE Select | NP_004055.1:p.Lys47Gln |