Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.26663001C>A , CM000684.2:g.26663001C>A | GRCh38 |
| NC_000022.10:g.27058965C>A , CM000684.1:g.27058965C>A | GRCh37 |
| NC_000022.9:g.25388965C>A | NCBI36 |
| NG_016621.2:g.10520C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_003491.3:n.174-315C>A | ||
| NR_033319.2:n.174-315C>A | ||
| NR_033320.2:n.174-315C>A | ||
| NR_033321.2:n.174-315C>A |