Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.43169271G>C , CM000683.2:g.43169271G>C | GRCh38 |
| NG_009823.1:g.5241G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291554.6:c.172G>C MANE Select | ENSP00000291554.2:p.Asp58His | |
| ENST00000482775.1:n.185G>C | ||
| NM_000394.3:c.172G>C | NP_000385.1:p.Asp58His | |
| XR_001755073.1:n.647+1766C>G | ||
| NM_000394.4:c.172G>C MANE Select | NP_000385.1:p.Asp58His |