Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.3004542G>C , CM000686.2:g.3004542G>C | GRCh38 |
| NC_000024.9:g.2872583G>C , CM000686.1:g.2872583G>C | GRCh37 |
| NC_000024.8:g.2932583G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_046502.1:n.222+1325G>C |