Canonical Allele Identifier:
CA297271141
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.95953223 (NFE)
Genomes Max Group AF
0.95953223 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.22610832G>A , CM000680.2:g.22610832G>A | GRCh38 |
| NC_000018.9:g.20190795G>A , CM000680.1:g.20190795G>A | GRCh37 |
| NC_000018.8:g.18444793G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_935284.1:n.88-639C>T | ||
| XR_935285.1:n.682-639C>T |