Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.4677600C>T , CM000672.2:g.4677600C>T | GRCh38 |
| NC_000010.10:g.4719792C>T , CM000672.1:g.4719792C>T | GRCh37 |
| NC_000010.9:g.4709792C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_024475.1:n.22+449G>A | ||
| XR_930595.1:n.1911+781C>T | ||
| XR_930596.1:n.1900+781C>T | ||
| XR_001747338.1:n.1911+781C>T |