Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.69434901G>C , CM000674.2:g.69434901G>C | GRCh38 |
| NC_000012.11:g.69828681G>C , CM000674.1:g.69828681G>C | GRCh37 |
| NC_000012.10:g.68114948G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| XR_945061.1:n.163+3188G>C |