Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.43172107C= , CM000683.2:g.43172107C= | GRCh38 |
| NG_009823.1:g.8077C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291554.6:c.349C= MANE Select | ENSP00000291554.2:p.Arg117= | |
| ENST00000398132.1:c.238C= | ENSP00000381200.1:p.Arg80= | |
| ENST00000398133.5:c.289C= | ENSP00000381201.1:p.Arg97= | |
| ENST00000468016.1:n.450C= | ||
| ENST00000482775.1:n.430C= | ||
| NM_000394.3:c.349C= | NP_000385.1:p.Arg117= | |
| XM_005261093.2:c.238C= | XP_005261150.1:p.Arg80= | |
| NM_001363766.1:c.238C= | NP_001350695.1:p.Arg80= | |
| NM_000394.4:c.349C= MANE Select | NP_000385.1:p.Arg117= |