Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.121179860T>A , CM000672.2:g.121179860T>A | GRCh38 |
| NC_000010.10:g.122939374T>A , CM000672.1:g.122939374T>A | GRCh37 |
| NC_000010.9:g.122929364T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_246197.2:n.684+888T>A |