Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.35757291G>A , CM000677.2:g.35757291G>A | GRCh38 |
| NC_000015.9:g.36049492G>A , CM000677.1:g.36049492G>A | GRCh37 |
| NC_000015.8:g.33836784G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_038251.1:n.462+45402G>A |