HGVS | Genome Assembly |
---|---|
NC_000012.12:g.12720445A= , CM000674.2:g.12720445A= | GRCh38 |
NC_000012.11:g.12873379A= , CM000674.1:g.12873379A= | GRCh37 |
NC_000012.10:g.12764646A= | NCBI36 |
NG_016341.1:g.8078A= |
HGVS | Amino-acid change | |
---|---|---|
ENST00000614874.2:c.*1499A= | ENSP00000507272.1:n.*1499A= | |
ENST00000682620.1:n.1761-591A= | ||
ENST00000684771.1:n.715-591A= | ||
ENST00000228872.9:c.*9-591A= MANE Select | ENSP00000228872.4:n.*9-591A= | |
ENST00000228872.8:c.*9-591A= | ENSP00000228872.4:n.*9-591A= | |
ENST00000396340.1:c.476-620A= | ENSP00000379629.1:n.476-620A= | |
ENST00000442489.1:c.324-591A= | ENSP00000407597.1:n.324-591A= | |
ENST00000477087.1:n.285-591A= | ||
NM_004064.4:c.*9-591A= | NP_004055.1:n.*9-591A= | |
NM_004064.5:c.*9-591A= MANE Select | NP_004055.1:n.*9-591A= |