Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.62277122G>A , CM000672.2:g.62277122G>A | GRCh38 |
| NC_000010.10:g.64036881G>A , CM000672.1:g.64036881G>A | GRCh37 |
| NC_000010.9:g.63706887G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_945999.1:n.125-25204G>A |