HGVS | Genome Assembly |
---|---|
NC_000006.12:g.31269506G= , CM000668.2:g.31269506G= | GRCh38 |
NC_000006.11:g.31237283G= , CM000668.1:g.31237283G= | GRCh37 |
NC_000006.10:g.31345262G= | NCBI36 |
NG_029422.2:g.7626C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000376228.10:c.1035C= MANE Select | ENSP00000365402.5:p.Cys345= | |
ENST00000376228.9:c.1035C= | ENSP00000365402.5:p.Cys345= | |
ENST00000376237.8:c.*622C= | ENSP00000365412.4:n.*622C= | |
ENST00000383329.7:c.1053C= | ENSP00000372819.3:p.Cys351= | |
ENST00000466892.5:n.161C= | ||
ENST00000470363.5:n.793C= | ||
ENST00000487245.5:n.1394C= | ||
NM_002117.5:c.1035C= | NP_002108.4:p.Cys345= | |
NM_002117.6:c.1035C= MANE Select | NP_002108.4:p.Cys345= |