Canonical Allele Identifier:
CA991602558
Gene:
gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.70486384T>G , CM000680.2:g.70486384T>G | GRCh38 |
| NC_000018.9:g.68153620T>G , CM000680.1:g.68153620T>G | GRCh37 |
| NC_000018.8:g.66304600T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_935606.1:n.330T>G | ||
| XR_935607.1:n.330T>G | ||
| XR_001753496.1:n.258+21345T>G | ||
| XR_935606.2:n.596T>G |