Canonical Allele Identifier:
CA337441495
Gene:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00849494 (EAS)
Genomes Max Group AF
0.00849494 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.19754588A>T , CM000686.2:g.19754588A>T | GRCh38 |
| NC_000024.9:g.21916474A>T , CM000686.1:g.21916474A>T | GRCh37 |
| NC_000024.8:g.20375862A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_938630.1:n.927-139A>T | ||
| XR_001756067.2:n.927-38A>T | ||
| XR_001756068.2:n.927-38A>T | ||
| XR_938630.3:n.927-139A>T |