HGVS | Genome Assembly |
---|---|
NC_000012.12:g.12720218C= , CM000674.2:g.12720218C= | GRCh38 |
NC_000012.11:g.12873152C= , CM000674.1:g.12873152C= | GRCh37 |
NC_000012.10:g.12764419C= | NCBI36 |
NG_016341.1:g.7851C= |
HGVS | Amino-acid change | |
---|---|---|
ENST00000614874.2:c.*1272C= | ENSP00000507272.1:n.*1272C= | |
ENST00000682620.1:n.1761-818C= | ||
ENST00000684771.1:n.715-818C= | ||
ENST00000228872.9:c.*9-818C= MANE Select | ENSP00000228872.4:n.*9-818C= | |
ENST00000228872.8:c.*9-818C= | ENSP00000228872.4:n.*9-818C= | |
ENST00000396340.1:c.476-847C= | ENSP00000379629.1:n.476-847C= | |
ENST00000442489.1:c.324-818C= | ENSP00000407597.1:n.324-818C= | |
ENST00000477087.1:n.285-818C= | ||
NM_004064.4:c.*9-818C= | NP_004055.1:n.*9-818C= | |
NM_004064.5:c.*9-818C= MANE Select | NP_004055.1:n.*9-818C= |