Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.11206827C>A , CM000673.2:g.11206827C>A | GRCh38 |
| NC_000011.9:g.11228374C>A , CM000673.1:g.11228374C>A | GRCh37 |
| NC_000011.8:g.11184950C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| XR_001748132.1:n.3406-21252C>A |