Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.65861834A>C , CM000669.2:g.65861834A>C | GRCh38 |
| NC_000007.13:g.65326821A>C , CM000669.1:g.65326821A>C | GRCh37 |
| NC_000007.12:g.64964256A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| XM_011515830.1:c.65-9811A>C | XP_011514132.1:n.65-9811A>C |
| XR_927616.1:n.49-1024T>G |