Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.91588376T>C , CM000672.2:g.91588376T>C | GRCh38 |
| NC_000010.10:g.93348133T>C , CM000672.1:g.93348133T>C | GRCh37 |
| NC_000010.9:g.93338113T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_024467.1:n.110+22975A>G |