HGVS | Genome Assembly |
---|---|
NC_000011.10:g.47582402C>A , CM000673.2:g.47582402C>A | GRCh38 |
NC_000011.9:g.47603954C>A , CM000673.1:g.47603954C>A | GRCh37 |
NC_000011.8:g.47560530C>A | NCBI36 |
NG_011946.1:g.8393C>A | |
NG_011946.2:g.8393C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000263774.9:c.561C>A MANE Select | ENSP00000263774.4:p.Ile187= | |
ENST00000531351.2:n.1756C>A | ||
ENST00000677462.1:n.3035C>A | ||
ENST00000678975.1:n.2818C>A | ||
ENST00000263774.8:c.561C>A | ENSP00000263774.4:p.Ile187= | |
ENST00000524568.1:n.664C>A | ||
ENST00000525212.1:n.216C>A | ||
ENST00000525378.5:n.499C>A | ||
ENST00000527178.1:n.161C>A | ||
ENST00000533507.5:n.1455C>A | ||
NM_004551.2:c.561C>A | NP_004542.1:p.Ile187= | |
NM_004551.3:c.561C>A MANE Select | NP_004542.1:p.Ile187= |