HGVS | Genome Assembly |
---|---|
NC_000006.12:g.31269446A= , CM000668.2:g.31269446A= | GRCh38 |
NC_000006.11:g.31237223A= , CM000668.1:g.31237223A= | GRCh37 |
NC_000006.10:g.31345202A= | NCBI36 |
NG_029422.2:g.7686T= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000376228.10:c.1048+47T= MANE Select | ENSP00000365402.5:n.1048+47T= | |
ENST00000376228.9:c.1048+47T= | ENSP00000365402.5:n.1048+47T= | |
ENST00000376237.8:c.*635+47T= | ENSP00000365412.4:n.*635+47T= | |
ENST00000383329.7:c.1066+47T= | ENSP00000372819.3:n.1066+47T= | |
ENST00000466892.5:n.221T= | ||
ENST00000470363.5:n.806+47T= | ||
ENST00000487245.5:n.1407+47T= | ||
NM_002117.5:c.1048+47T= | NP_002108.4:n.1048+47T= | |
NM_002117.6:c.1048+47T= MANE Select | NP_002108.4:n.1048+47T= |