HGVS | Genome Assembly |
---|---|
NC_000011.10:g.47582261A>G , CM000673.2:g.47582261A>G | GRCh38 |
NC_000011.9:g.47603813A>G , CM000673.1:g.47603813A>G | GRCh37 |
NC_000011.8:g.47560389A>G | NCBI36 |
NG_011946.1:g.8252A>G | |
NG_011946.2:g.8252A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000263774.9:c.507+48A>G MANE Select | ENSP00000263774.4:n.507+48A>G | |
ENST00000531351.2:n.1615A>G | ||
ENST00000677462.1:n.2981+48A>G | ||
ENST00000678975.1:n.2764+48A>G | ||
ENST00000263774.8:c.507+48A>G | ENSP00000263774.4:n.507+48A>G | |
ENST00000524568.1:n.610+48A>G | ||
ENST00000525212.1:n.162+48A>G | ||
ENST00000525378.5:n.445+48A>G | ||
ENST00000527178.1:n.20A>G | ||
ENST00000533507.5:n.1401+48A>G | ||
NM_004551.2:c.507+48A>G | NP_004542.1:n.507+48A>G | |
NM_004551.3:c.507+48A>G MANE Select | NP_004542.1:n.507+48A>G |