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