Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.20756095G>C , CM000686.2:g.20756095G>C | GRCh38 |
| NC_000024.9:g.22917981G>C , CM000686.1:g.22917981G>C | GRCh37 |
| NC_000024.8:g.21327369G>C | NCBI36 |
| NG_032924.1:g.5028G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NM_001039567.2:c.-69G>C | NP_001034656.1:n.-69G>C |