Canonical Allele Identifier:
CA191701689
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.01326841 (SAS)
Genomes Max Group AF
0.01326841 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.25551265A>G , CM000671.2:g.25551265A>G | GRCh38 |
| NC_000009.11:g.25551263A>G , CM000671.1:g.25551263A>G | GRCh37 |
| NC_000009.10:g.25541263A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_929525.1:n.50-693T>C | ||
| XR_929525.2:n.674-693T>C |