Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.43768652A>C , CM000668.2:g.43768652A>C | GRCh38 |
| NC_000006.11:g.43736389A>C , CM000668.1:g.43736389A>C | GRCh37 |
| NC_000006.10:g.43844367A>C | NCBI36 |
| NG_008732.1:g.3437A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001318876.2:c.945+239381A>C | NP_001305805.1:n.945+239381A>C |