Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.108267100G>A , CM000675.2:g.108267100G>A | GRCh38 |
| NC_000013.10:g.108919448G>A , CM000675.1:g.108919448G>A | GRCh37 |
| NC_000013.9:g.107717449G>A | NCBI36 |
| NG_029524.1:g.2472G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000486502.1:n.78-3000G>A | ||
| XR_931715.1:n.1735G>A |