Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.71112550C>T , CM000679.2:g.71112550C>T | GRCh38 |
| NC_000017.10:g.69108691C>T , CM000679.1:g.69108691C>T | GRCh37 |
| NC_000017.9:g.66620286C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_104152.1:n.218-12932G>A |