Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6471258C>A , CM000674.2:g.6471258C>A | GRCh38 |
| NC_000012.11:g.6580424C>A , CM000674.1:g.6580424C>A | GRCh37 |
| NC_000012.10:g.6450685C>A | NCBI36 |
| NG_042188.1:g.4642G>T | |
| NG_042188.2:g.4642G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_001748777.2:n.2525C>A | ||
| XR_001748778.2:n.2522C>A |