HGVS | Genome Assembly |
---|---|
NC_000016.10:g.82095760A>G , CM000678.2:g.82095760A>G | GRCh38 |
NC_000016.9:g.82129365A>G , CM000678.1:g.82129365A>G | GRCh37 |
NC_000016.8:g.80686866A>G | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000199936.9:c.803-2315A>G MANE Select | ENSP00000199936.4:n.803-2315A>G | |
ENST00000199936.8:c.803-2315A>G | ENSP00000199936.4:n.803-2315A>G | |
ENST00000566838.2:c.5151A>G | ENSP00000456471.1:n.5151A>G | |
ENST00000568090.5:c.395-2315A>G | ENSP00000456529.1:n.395-2315A>G | |
NM_002153.2:c.803-2315A>G | NP_002144.1:n.803-2315A>G | |
XR_001751898.2:n.1021-2315A>G | ||
NM_002153.3:c.803-2315A>G MANE Select | NP_002144.1:n.803-2315A>G |