Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.43858890C>A , CM000668.2:g.43858890C>A | GRCh38 |
| NC_000006.11:g.43826627C>A , CM000668.1:g.43826627C>A | GRCh37 |
| NC_000006.10:g.43934605C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001318876.2:c.945+329619C>A | NP_001305805.1:n.945+329619C>A |
| XR_001744131.1:n.2589+16257C>A |