Canonical Allele Identifier:
CA16174926
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.33972229 (EAS)
Genomes Max Group AF
0.33972229 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.13241173G>A , CM000666.2:g.13241173G>A | GRCh38 |
| NC_000004.11:g.13242797G>A , CM000666.1:g.13242797G>A | GRCh37 |
| NC_000004.10:g.12851895G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_925410.1:n.201+308C>T | ||
| XR_001741378.1:n.3313+308C>T |