Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.129774713A>G , CM000669.2:g.129774713A>G | GRCh38 |
| NC_000007.13:g.129414553A>G , CM000669.1:g.129414553A>G | GRCh37 |
| NC_000007.12:g.129201789A>G | NCBI36 |
| NG_023385.1:g.5302T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_029512.1:n.57T>C |