Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.27752101G>C , CM000677.2:g.27752101G>C | GRCh38 |
| NC_000015.9:g.27997247G>C , CM000677.1:g.27997247G>C | GRCh37 |
| NC_000015.8:g.25670842G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_017022258.1:c.2457-32773C>G | XP_016877747.1:n.2457-32773C>G | |
| XM_017022264.1:c.2292-32773C>G | XP_016877753.1:n.2292-32773C>G |