Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.68952306A>G , CM000672.2:g.68952306A>G | GRCh38 |
| NC_000010.10:g.70712062A>G , CM000672.1:g.70712062A>G | GRCh37 |
| NC_000010.9:g.70382068A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| XM_017016626.1:c.*1539-3452A>G | XP_016872115.1:n.*1539-3452A>G |