HGVS | Genome Assembly |
---|---|
NC_000012.12:g.12720274C= , CM000674.2:g.12720274C= | GRCh38 |
NC_000012.11:g.12873208C= , CM000674.1:g.12873208C= | GRCh37 |
NC_000012.10:g.12764475C= | NCBI36 |
NG_016341.1:g.7907C= |
HGVS | Amino-acid change | |
---|---|---|
ENST00000614874.2:c.*1328C= | ENSP00000507272.1:n.*1328C= | |
ENST00000682620.1:n.1761-762C= | ||
ENST00000684771.1:n.715-762C= | ||
ENST00000228872.9:c.*9-762C= MANE Select | ENSP00000228872.4:n.*9-762C= | |
ENST00000228872.8:c.*9-762C= | ENSP00000228872.4:n.*9-762C= | |
ENST00000396340.1:c.476-791C= | ENSP00000379629.1:n.476-791C= | |
ENST00000442489.1:c.324-762C= | ENSP00000407597.1:n.324-762C= | |
ENST00000477087.1:n.285-762C= | ||
NM_004064.4:c.*9-762C= | NP_004055.1:n.*9-762C= | |
NM_004064.5:c.*9-762C= MANE Select | NP_004055.1:n.*9-762C= |