Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.43769749C>T , CM000668.2:g.43769749C>T | GRCh38 |
| NC_000006.11:g.43737486C>T , CM000668.1:g.43737486C>T | GRCh37 |
| NC_000006.10:g.43845464C>T | NCBI36 |
| NG_008732.1:g.4534C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001318876.2:c.945+240478C>T | NP_001305805.1:n.945+240478C>T |