Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.9332936A>C , CM000686.2:g.9332936A>C | GRCh38 |
| NC_000024.9:g.9170545A>C , CM000686.1:g.9170545A>C | GRCh37 |
| NC_000024.8:g.9230545A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_001546.1:n.82+1815T>G |