HGVS | Genome Assembly |
---|---|
NC_000023.11:g.38675840G= , CM000685.2:g.38675840G= | GRCh38 |
NC_000023.10:g.38535094G= , CM000685.1:g.38535094G= | GRCh37 |
NC_000023.9:g.38420038G= | NCBI36 |
NG_009160.1:g.119364G= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000378482.7:c.577G= MANE Select | ENSP00000367743.2:p.Ala193= | |
ENST00000286824.6:c.628G= | ENSP00000286824.6:p.Ala210= | |
ENST00000378482.6:c.577G= | ENSP00000367743.2:p.Ala193= | |
ENST00000419600.3:n.521G= | ||
ENST00000465127.1:c.667G= | ENSP00000417050.1:p.Ala223= | |
ENST00000471410.5:c.*603G= | ENSP00000419290.1:n.*603G= | |
ENST00000475216.5:c.*570G= | ENSP00000418586.1:n.*570G= | |
NM_004615.3:c.577G= | NP_004606.2:p.Ala193= | |
NM_004615.4:c.577G= MANE Select | NP_004606.2:p.Ala193= |