Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.59433712T>C , CM000679.2:g.59433712T>C | GRCh38 |
| NC_000017.10:g.57511073T>C , CM000679.1:g.57511073T>C | GRCh37 |
| NC_000017.9:g.54865855T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_110813.1:n.495-2792A>G | |
| XR_934888.1:n.1038+7638T>C |