HGVS | Genome Assembly |
---|---|
NC_000006.12:g.31269444G= , CM000668.2:g.31269444G= | GRCh38 |
NC_000006.11:g.31237221G= , CM000668.1:g.31237221G= | GRCh37 |
NC_000006.10:g.31345200G= | NCBI36 |
NG_029422.2:g.7688C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000376228.10:c.1048+49C= MANE Select | ENSP00000365402.5:n.1048+49C= | |
ENST00000376228.9:c.1048+49C= | ENSP00000365402.5:n.1048+49C= | |
ENST00000376237.8:c.*635+49C= | ENSP00000365412.4:n.*635+49C= | |
ENST00000383329.7:c.1066+49C= | ENSP00000372819.3:n.1066+49C= | |
ENST00000466892.5:n.223C= | ||
ENST00000470363.5:n.806+49C= | ||
ENST00000487245.5:n.1407+49C= | ||
NM_002117.5:c.1048+49C= | NP_002108.4:n.1048+49C= | |
NM_002117.6:c.1048+49C= MANE Select | NP_002108.4:n.1048+49C= |