Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.95709641C>G , CM000676.2:g.95709641C>G | GRCh38 |
| NC_000014.8:g.96175978C>G , CM000676.1:g.96175978C>G | GRCh37 |
| NC_000014.7:g.95245731C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| XM_017021676.2:c.*1+2113G>C | XP_016877165.1:n.*1+2113G>C |
| XM_017021677.2:c.*6+2108G>C | XP_016877166.1:n.*6+2108G>C |