Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.43169244C= , CM000683.2:g.43169244C= | GRCh38 |
| NG_009823.1:g.5214C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000394.4:c.145C= MANE Select | NP_000385.1:p.Arg49= |
| ENST00000291554.6:c.145C= MANE Select | ENSP00000291554.2:p.Arg49= |
| NM_000394.3:c.145C= | NP_000385.1:p.Arg49= |
| ENST00000482775.1:n.158C= | |
| XR_001755073.1:n.647+1793G= |