Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.43169224C= , CM000683.2:g.43169224C= | GRCh38 |
| NG_009823.1:g.5194C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291554.6:c.125C= MANE Select | ENSP00000291554.2:p.Ser42= | |
| ENST00000482775.1:n.138C= | ||
| NM_000394.3:c.125C= | NP_000385.1:p.Ser42= | |
| XR_001755073.1:n.647+1813G= | ||
| NM_000394.4:c.125C= MANE Select | NP_000385.1:p.Ser42= |