HGVS | Genome Assembly |
---|---|
NC_000011.10:g.47582405G= , CM000673.2:g.47582405G= | GRCh38 |
NC_000011.9:g.47603957G= , CM000673.1:g.47603957G= | GRCh37 |
NC_000011.8:g.47560533G= | NCBI36 |
NG_011946.1:g.8396G= | |
NG_011946.2:g.8396G= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000263774.9:c.564G= MANE Select | ENSP00000263774.4:p.Leu188= | |
ENST00000531351.2:n.1759G= | ||
ENST00000677462.1:n.3038G= | ||
ENST00000678975.1:n.2821G= | ||
ENST00000263774.8:c.564G= | ENSP00000263774.4:p.Leu188= | |
ENST00000524568.1:n.667G= | ||
ENST00000525212.1:n.219G= | ||
ENST00000525378.5:n.502G= | ||
ENST00000527178.1:n.164G= | ||
ENST00000533507.5:n.1458G= | ||
NM_004551.2:c.564G= | NP_004542.1:p.Leu188= | |
NM_004551.3:c.564G= MANE Select | NP_004542.1:p.Leu188= |