Canonical Allele Identifier:
CA862568179
Gene:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00002854 (NFE)
Genomes Max Group AF
0.00002854 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.25551385T>C , CM000671.2:g.25551385T>C | GRCh38 |
| NC_000009.11:g.25551383T>C , CM000671.1:g.25551383T>C | GRCh37 |
| NC_000009.10:g.25541383T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_929525.1:n.50-813A>G | ||
| XR_929525.2:n.674-813A>G |