Canonical Allele Identifier:
CA179818585
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00009054 (NFE)
Genomes Max Group AF
0.00009054 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.75124209T>G , CM000670.2:g.75124209T>G | GRCh38 |
| NC_000008.10:g.76036444T>G , CM000670.1:g.76036444T>G | GRCh37 |
| NC_000008.9:g.76198999T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_929058.1:n.73+1777T>G | ||
| XR_929058.2:n.203+1777T>G |