Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32390408G>C , CM000668.2:g.32390408G>C | GRCh38 |
| NC_000006.11:g.32358185G>C , CM000668.1:g.32358185G>C | GRCh37 |
| NC_000006.10:g.32466163G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_011515039.1:c.482-15046G>C | XP_011513341.1:n.482-15046G>C | |
| NR_136245.1:n.303-15046G>C |