Canonical Allele Identifier:
CA2806957779
Gene:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.49108554G>C , CM000678.2:g.49108554G>C | GRCh38 |
| NC_000016.9:g.49142465G>C , CM000678.1:g.49142465G>C | GRCh37 |
| NC_000016.8:g.47699966G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_933517.1:n.810+1390C>G | ||
| XR_001752138.2:n.591+5422C>G | ||
| XR_933517.2:n.810+1390C>G |