Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.133520114C>G , CM000672.2:g.133520114C>G | GRCh38 |
| NC_000010.10:g.135333618C>G , CM000672.1:g.135333618C>G | GRCh37 |
| NC_000010.9:g.135183608C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000488261.6:n.4422-3157C>G | |
| XR_001747676.2:n.3197-264G>C |