Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.69854518A>C , CM000679.2:g.69854518A>C | GRCh38 |
| NC_000017.10:g.67850659A>C , CM000679.1:g.67850659A>C | GRCh37 |
| NC_000017.9:g.65362254A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_109971.1:n.363+9032A>C | ||
| NR_109972.1:n.363+9032A>C |