Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.38334202C>A , CM000666.2:g.38334202C>A | GRCh38 |
| NC_000004.11:g.38335823C>A , CM000666.1:g.38335823C>A | GRCh37 |
| NC_000004.10:g.38012218C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_925221.1:n.258+3240C>A | ||
| XR_925222.1:n.258+3240C>A | ||
| XR_925223.1:n.258+3240C>A |