HGVS | Genome Assembly |
---|---|
NC_000005.10:g.52899146C>T , CM000667.2:g.52899146C>T | GRCh38 |
NC_000005.9:g.52194976C>T , CM000667.1:g.52194976C>T | GRCh37 |
NC_000005.8:g.52230733C>T | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000282588.7:c.1309+763C>T MANE Select | ENSP00000282588.5:n.1309+763C>T | |
ENST00000650673.1:c.*471+763C>T | ENSP00000498529.1:n.*471+763C>T | |
ENST00000282588.6:c.1309+763C>T | ENSP00000282588.5:n.1309+763C>T | |
NM_181501.1:c.1309+763C>T | NP_852478.1:n.1309+763C>T | |
NM_181501.2:c.1309+763C>T MANE Select | NP_852478.1:n.1309+763C>T |