Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.1715085C>T , CM000679.2:g.1715085C>T | GRCh38 |
| NC_000017.10:g.1618379C>T , CM000679.1:g.1618379C>T | GRCh37 |
| NC_000017.9:g.1565129C>T | NCBI36 |
| NG_032811.1:g.3563C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_028502.1:n.143+1045G>A | ||
| NR_028503.1:n.143+1045G>A | ||
| NR_028504.1:n.144-632G>A | ||
| NR_028505.1:n.143+1045G>A |