Canonical Allele Identifier:
CA311859257
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.71532657 (NFE)
Genomes Max Group AF
0.71532657 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.11176363A>T , CM000682.2:g.11176363A>T | GRCh38 |
| NC_000020.10:g.11157011A>T , CM000682.1:g.11157011A>T | GRCh37 |
| NC_000020.9:g.11105011A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_937260.1:n.168+213T>A |