HGVS | Genome Assembly |
---|---|
NC_000005.10:g.52899159G>A , CM000667.2:g.52899159G>A | GRCh38 |
NC_000005.9:g.52194989G>A , CM000667.1:g.52194989G>A | GRCh37 |
NC_000005.8:g.52230746G>A | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000282588.7:c.1309+776G>A MANE Select | ENSP00000282588.5:n.1309+776G>A | |
ENST00000650673.1:c.*471+776G>A | ENSP00000498529.1:n.*471+776G>A | |
ENST00000282588.6:c.1309+776G>A | ENSP00000282588.5:n.1309+776G>A | |
NM_181501.1:c.1309+776G>A | NP_852478.1:n.1309+776G>A | |
NM_181501.2:c.1309+776G>A MANE Select | NP_852478.1:n.1309+776G>A |