Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.47838310C>T , CM000674.2:g.47838310C>T | GRCh38 |
| NC_000012.11:g.48232093C>T , CM000674.1:g.48232093C>T | GRCh37 |
| NC_000012.10:g.46518360C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| XR_001749114.1:n.981C>T |