Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.43172108G= , CM000683.2:g.43172108G= | GRCh38 |
| NG_009823.1:g.8078G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291554.6:c.350G= MANE Select | ENSP00000291554.2:p.Arg117= | |
| ENST00000398132.1:c.239G= | ENSP00000381200.1:p.Arg80= | |
| ENST00000398133.5:c.290G= | ENSP00000381201.1:p.Arg97= | |
| ENST00000468016.1:n.451G= | ||
| ENST00000482775.1:n.431G= | ||
| NM_000394.3:c.350G= | NP_000385.1:p.Arg117= | |
| XM_005261093.2:c.239G= | XP_005261150.1:p.Arg80= | |
| NM_001363766.1:c.239G= | NP_001350695.1:p.Arg80= | |
| NM_000394.4:c.350G= MANE Select | NP_000385.1:p.Arg117= |