Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6471254C>T , CM000674.2:g.6471254C>T | GRCh38 |
| NC_000012.11:g.6580420C>T , CM000674.1:g.6580420C>T | GRCh37 |
| NC_000012.10:g.6450681C>T | NCBI36 |
| NG_042188.1:g.4646G>A | |
| NG_042188.2:g.4646G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_001748777.2:n.2521C>T | ||
| XR_001748778.2:n.2518C>T |