Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.216760800G>C , CM000664.2:g.216760800G>C | GRCh38 |
| NC_000002.11:g.217625523G>C , CM000664.1:g.217625523G>C | GRCh37 |
| NC_000002.10:g.217333768G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| XR_001739169.1:n.482-4089G>C | |
| XR_241409.2:n.91-4089G>C |