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