HGVS | Genome Assembly |
---|---|
NC_000012.12:g.12717913A>C , CM000674.2:g.12717913A>C | GRCh38 |
NC_000012.11:g.12870847A>C , CM000674.1:g.12870847A>C | GRCh37 |
NC_000012.10:g.12762114A>C | NCBI36 |
NG_016341.1:g.5546A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000614874.2:c.74A>C | ENSP00000507272.1:p.Lys25Thr | |
ENST00000682620.1:n.1631-912A>C | ||
ENST00000684771.1:n.585-912A>C | ||
ENST00000228872.9:c.74A>C MANE Select | ENSP00000228872.4:p.Lys25Thr | |
ENST00000228872.8:c.74A>C | ENSP00000228872.4:p.Lys25Thr | |
ENST00000396340.1:c.74A>C | ENSP00000379629.1:p.Lys25Thr | |
ENST00000442489.1:c.53A>C | ENSP00000407597.1:p.Lys18Thr | |
ENST00000477087.1:n.155-912A>C | ||
NM_004064.4:c.74A>C | NP_004055.1:p.Lys25Thr | |
NM_004064.5:c.74A>C MANE Select | NP_004055.1:p.Lys25Thr |