Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.20756094C>A , CM000686.2:g.20756094C>A | GRCh38 |
| NC_000024.9:g.22917980C>A , CM000686.1:g.22917980C>A | GRCh37 |
| NC_000024.8:g.21327368C>A | NCBI36 |
| NG_032924.1:g.5027C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NM_001039567.2:c.-70C>A | NP_001034656.1:n.-70C>A |