HGVS | Genome Assembly |
---|---|
NC_000006.12:g.31270029G= , CM000668.2:g.31270029G= | GRCh38 |
NC_000006.11:g.31237806G= , CM000668.1:g.31237806G= | GRCh37 |
NC_000006.10:g.31345785G= | NCBI36 |
NG_029422.2:g.7103C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000376228.10:c.952C= MANE Select | ENSP00000365402.5:p.Leu318= | |
ENST00000376228.9:c.952C= | ENSP00000365402.5:p.Leu318= | |
ENST00000376237.8:c.*539C= | ENSP00000365412.4:n.*539C= | |
ENST00000383329.7:c.952C= | ENSP00000372819.3:p.Leu318= | |
ENST00000470363.5:n.270C= | ||
ENST00000487245.5:n.1311C= | ||
NM_002117.5:c.952C= | NP_002108.4:p.Leu318= | |
NM_002117.6:c.952C= MANE Select | NP_002108.4:p.Leu318= |