Canonical Allele Identifier:
CA278173669
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.20459402 (NFE)
Genomes Max Group AF
0.20459402 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.9650238A>G , CM000678.2:g.9650238A>G | GRCh38 |
| NC_000016.9:g.9744095A>G , CM000678.1:g.9744095A>G | GRCh37 |
| NC_000016.8:g.9651596A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_429665.2:n.1066-5213A>G | ||
| XR_001752073.1:n.1767-5213A>G | ||
| XR_001752074.1:n.651-5213A>G | ||
| XR_001752075.1:n.741-5213A>G |