HGVS | Genome Assembly |
---|---|
NC_000006.12:g.31269524A>T , CM000668.2:g.31269524A>T | GRCh38 |
NC_000006.11:g.31237301A>T , CM000668.1:g.31237301A>T | GRCh37 |
NC_000006.10:g.31345280A>T | NCBI36 |
NG_029422.2:g.7608T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000376228.10:c.1017T>A MANE Select | ENSP00000365402.5:p.Gly339= | |
ENST00000376228.9:c.1017T>A | ENSP00000365402.5:p.Gly339= | |
ENST00000376237.8:c.*604T>A | ENSP00000365412.4:n.*604T>A | |
ENST00000383329.7:c.1035T>A | ENSP00000372819.3:p.Gly345= | |
ENST00000466892.5:n.143T>A | ||
ENST00000470363.5:n.775T>A | ||
ENST00000487245.5:n.1376T>A | ||
NM_002117.5:c.1017T>A | NP_002108.4:p.Gly339= | |
NM_002117.6:c.1017T>A MANE Select | NP_002108.4:p.Gly339= |