Canonical Allele Identifier:
CA213435875
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.9745473 (NFE)
Genomes Max Group AF
0.9745473 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.106285899G>A , CM000672.2:g.106285899G>A | GRCh38 |
| NC_000010.10:g.108045657G>A , CM000672.1:g.108045657G>A | GRCh37 |
| NC_000010.9:g.108035647G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_428810.2:n.132+300G>A | ||
| XR_946297.1:n.132+300G>A | ||
| XR_428810.3:n.132+300G>A | ||
| XR_946297.2:n.132+300G>A |