HGVS | Genome Assembly |
---|---|
NC_000011.10:g.47582262C>T , CM000673.2:g.47582262C>T | GRCh38 |
NC_000011.9:g.47603814C>T , CM000673.1:g.47603814C>T | GRCh37 |
NC_000011.8:g.47560390C>T | NCBI36 |
NG_011946.1:g.8253C>T | |
NG_011946.2:g.8253C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000263774.9:c.507+49C>T MANE Select | ENSP00000263774.4:n.507+49C>T | |
ENST00000531351.2:n.1616C>T | ||
ENST00000677462.1:n.2981+49C>T | ||
ENST00000678975.1:n.2764+49C>T | ||
ENST00000263774.8:c.507+49C>T | ENSP00000263774.4:n.507+49C>T | |
ENST00000524568.1:n.610+49C>T | ||
ENST00000525212.1:n.162+49C>T | ||
ENST00000525378.5:n.445+49C>T | ||
ENST00000527178.1:n.21C>T | ||
ENST00000533507.5:n.1401+49C>T | ||
NM_004551.2:c.507+49C>T | NP_004542.1:n.507+49C>T | |
NM_004551.3:c.507+49C>T MANE Select | NP_004542.1:n.507+49C>T |