Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.7273854G>A , CM000669.2:g.7273854G>A | GRCh38 |
| NC_000007.13:g.7313485G>A , CM000669.1:g.7313485G>A | GRCh37 |
| NC_000007.12:g.7280010G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_108073.1:n.277-3731G>A |