Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.129774757C>T , CM000669.2:g.129774757C>T | GRCh38 |
| NC_000007.13:g.129414597C>T , CM000669.1:g.129414597C>T | GRCh37 |
| NC_000007.12:g.129201833C>T | NCBI36 |
| NG_023385.1:g.5258G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_029512.1:n.13G>A |