Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6471054A>C , CM000674.2:g.6471054A>C | GRCh38 |
| NC_000012.11:g.6580220A>C , CM000674.1:g.6580220A>C | GRCh37 |
| NC_000012.10:g.6450481A>C | NCBI36 |
| NG_042188.1:g.4846T>G | |
| NG_042188.2:g.4846T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_001748777.2:n.2321A>C | ||
| XR_001748778.2:n.2318A>C |