Canonical Allele Identifier:
CA13386146
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.29356912 (NFE)
Genomes Max Group AF
0.29356912 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.69167951G>A , CM000673.2:g.69167951G>A | GRCh38 |
| NC_000011.9:g.68935419G>A , CM000673.1:g.68935419G>A | GRCh37 |
| NC_000011.8:g.68691995G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_104161.1:n.475+378C>T | ||
| XR_950255.1:n.118+1043G>A | ||
| XR_950256.1:n.118+1043G>A | ||
| XR_950255.2:n.108+1043G>A | ||
| XR_950256.2:n.108+1043G>A |