Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.7968135C>A , CM000669.2:g.7968135C>A | GRCh38 |
| NC_000007.13:g.8007766C>A , CM000669.1:g.8007766C>A | GRCh37 |
| NC_000007.12:g.7974291C>A | NCBI36 |
| NG_032073.1:g.4393C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_110018.1:n.209+409G>T |