Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.67705024C>T , CM000680.2:g.67705024C>T | GRCh38 |
| NC_000018.9:g.65372261C>T , CM000680.1:g.65372261C>T | GRCh37 |
| NC_000018.8:g.63523241C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_033921.1:n.205-129395C>T | ||
| XR_935586.1:n.62-29722G>A | ||
| XR_935587.1:n.62-29722G>A | ||
| XR_935589.1:n.62-29722G>A | ||
| XR_001753481.2:n.73-29722G>A |