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