HGVS | Genome Assembly |
---|---|
NC_000006.12:g.31270286C= , CM000668.2:g.31270286C= | GRCh38 |
NC_000006.11:g.31238063C= , CM000668.1:g.31238063C= | GRCh37 |
NC_000006.10:g.31346042C= | NCBI36 |
NG_029422.2:g.6846G= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000376228.10:c.819G= MANE Select | ENSP00000365402.5:p.Val273= | |
ENST00000376228.9:c.819G= | ENSP00000365402.5:p.Val273= | |
ENST00000376237.8:c.*406G= | ENSP00000365412.4:n.*406G= | |
ENST00000383329.7:c.819G= | ENSP00000372819.3:p.Val273= | |
ENST00000415537.1:c.710G= | ||
ENST00000470363.5:n.137G= | ||
ENST00000487245.5:n.1178G= | ||
ENST00000495835.1:n.1008G= | ||
NM_002117.5:c.819G= | NP_002108.4:p.Val273= | |
NM_002117.6:c.819G= MANE Select | NP_002108.4:p.Val273= |