Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.68241124C>T , CM000672.2:g.68241124C>T | GRCh38 |
| NC_000010.10:g.70000881C>T , CM000672.1:g.70000881C>T | GRCh37 |
| NC_000010.9:g.69670887C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| XR_001747481.1:n.103+1196G>A |