Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.88298034C>G , CM000678.2:g.88298034C>G | GRCh38 |
| NC_000016.9:g.88331640C>G , CM000678.1:g.88331640C>G | GRCh37 |
| NC_000016.8:g.86889141C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| XM_011523386.1:c.-192+21459C>G | XP_011521688.1:n.-192+21459C>G |