HGVS | Genome Assembly |
---|---|
NC_000006.12:g.31270426A>T , CM000668.2:g.31270426A>T | GRCh38 |
NC_000006.11:g.31238203A>T , CM000668.1:g.31238203A>T | GRCh37 |
NC_000006.10:g.31346182A>T | NCBI36 |
NG_029422.2:g.6706T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000376228.10:c.679T>A MANE Select | ENSP00000365402.5:p.Cys227Ser | |
ENST00000376228.9:c.679T>A | ENSP00000365402.5:p.Cys227Ser | |
ENST00000376237.8:c.*266T>A | ENSP00000365412.4:n.*266T>A | |
ENST00000383329.7:c.679T>A | ENSP00000372819.3:p.Cys227Ser | |
ENST00000415537.1:c.664+13T>A | ||
ENST00000487245.5:n.1038T>A | ||
ENST00000495835.1:n.868T>A | ||
NM_002117.5:c.679T>A | NP_002108.4:p.Cys227Ser | |
NM_002117.6:c.679T>A MANE Select | NP_002108.4:p.Cys227Ser |