HGVS | Genome Assembly |
---|---|
NC_000012.12:g.12720515A= , CM000674.2:g.12720515A= | GRCh38 |
NC_000012.11:g.12873449A= , CM000674.1:g.12873449A= | GRCh37 |
NC_000012.10:g.12764716A= | NCBI36 |
NG_016341.1:g.8148A= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000614874.2:c.*1569A= | ENSP00000507272.1:n.*1569A= | |
ENST00000682620.1:n.1761-521A= | ||
ENST00000684771.1:n.715-521A= | ||
ENST00000228872.9:c.*9-521A= MANE Select | ENSP00000228872.4:n.*9-521A= | |
ENST00000228872.8:c.*9-521A= | ENSP00000228872.4:n.*9-521A= | |
ENST00000396340.1:c.476-550A= | ENSP00000379629.1:n.476-550A= | |
ENST00000442489.1:c.324-521A= | ENSP00000407597.1:n.324-521A= | |
ENST00000477087.1:n.285-521A= | ||
NM_004064.4:c.*9-521A= | NP_004055.1:n.*9-521A= | |
NM_004064.5:c.*9-521A= MANE Select | NP_004055.1:n.*9-521A= |