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