Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.43169126G>C , CM000683.2:g.43169126G>C | GRCh38 |
| NG_009823.1:g.5096G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000394.4:c.27G>C MANE Select | NP_000385.1:p.Trp9Cys |
| ENST00000291554.6:c.27G>C MANE Select | ENSP00000291554.2:p.Trp9Cys |
| NM_000394.3:c.27G>C | NP_000385.1:p.Trp9Cys |
| ENST00000482775.1:n.40G>C | |
| XR_001755073.1:n.647+1911C>G |