Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.1715078G>A , CM000679.2:g.1715078G>A | GRCh38 |
| NC_000017.10:g.1618372G>A , CM000679.1:g.1618372G>A | GRCh37 |
| NC_000017.9:g.1565122G>A | NCBI36 |
| NG_032811.1:g.3556G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_028502.1:n.143+1052C>T | ||
| NR_028503.1:n.143+1052C>T | ||
| NR_028504.1:n.144-625C>T | ||
| NR_028505.1:n.143+1052C>T |