HGVS | Genome Assembly |
---|---|
NC_000019.10:g.55153962C= , CM000681.2:g.55153962C= | GRCh38 |
NC_000019.9:g.55665330C= , CM000681.1:g.55665330C= | GRCh37 |
NC_000019.8:g.60357142C= | NCBI36 |
NG_007866.2:g.8771G= , LRG_432:g.8771G= | |
NG_011829.2:g.277G= |
HGVS | Amino-acid change | |
---|---|---|
ENST00000344887.10:c.549+68G= MANE Select | ENSP00000341838.5:n.549+68G= | |
ENST00000665070.1:c.582+68G= | ENSP00000499482.1:n.582+68G= | |
ENST00000344887.9:c.549+68G= | ENSP00000341838.5:n.549+68G= | |
ENST00000585806.5:n.548+68G= | ||
ENST00000588882.1:c.474+68G= | ENSP00000466729.1:n.474+68G= | |
ENST00000589864.1:n.377+68G= | ||
NM_000363.4:c.549+68G= , LRG_432t1:c.549+68G= | NP_000354.4:n.549+68G= | |
NM_000363.5:c.549+68G= MANE Select | NP_000354.4:n.549+68G= |