HGVS | Genome Assembly |
---|---|
NC_000006.12:g.31269520T= , CM000668.2:g.31269520T= | GRCh38 |
NC_000006.11:g.31237297T= , CM000668.1:g.31237297T= | GRCh37 |
NC_000006.10:g.31345276T= | NCBI36 |
NG_029422.2:g.7612A= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000376228.10:c.1021A= MANE Select | ENSP00000365402.5:p.Lys341= | |
ENST00000376228.9:c.1021A= | ENSP00000365402.5:p.Lys341= | |
ENST00000376237.8:c.*608A= | ENSP00000365412.4:n.*608A= | |
ENST00000383329.7:c.1039A= | ENSP00000372819.3:p.Lys347= | |
ENST00000466892.5:n.147A= | ||
ENST00000470363.5:n.779A= | ||
ENST00000487245.5:n.1380A= | ||
NM_002117.5:c.1021A= | NP_002108.4:p.Lys341= | |
NM_002117.6:c.1021A= MANE Select | NP_002108.4:p.Lys341= |