HGVS | Genome Assembly |
---|---|
NC_000006.12:g.3154441C>T , CM000668.2:g.3154441C>T | GRCh38 |
NC_000006.11:g.3154675C>T , CM000668.1:g.3154675C>T | GRCh37 |
NC_000006.10:g.3099674C>T | NCBI36 |
NG_042223.1:g.8109G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000333628.4:c.760G>A MANE Select | ENSP00000369703.2:p.Ala254Thr | |
ENST00000679400.1:n.816G>A | ||
ENST00000679907.1:n.1148G>A | ||
ENST00000680036.1:n.1542G>A | ||
ENST00000680967.1:n.1850G>A | ||
ENST00000333628.3:c.760G>A | ENSP00000369703.2:p.Ala254Thr | |
NM_001069.2:c.760G>A | NP_001060.1:p.Ala254Thr | |
NM_001310315.1:c.505G>A | NP_001297244.1:p.Ala169Thr | |
NM_001069.3:c.760G>A MANE Select | NP_001060.1:p.Ala254Thr | |
NM_001310315.2:c.505G>A | NP_001297244.1:p.Ala169Thr |