Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.97784318C>A , CM000671.2:g.97784318C>A | GRCh38 |
| NC_000009.11:g.100546600C>A , CM000671.1:g.100546600C>A | GRCh37 |
| NC_000009.10:g.99586421C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_147055.1:n.777+19933G>T | |
| XR_930161.1:n.363+25577G>T |