Canonical Allele Identifier:
CA298284779
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.48553877 (NFE)
Genomes Max Group AF
0.48553877 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31252875T>C , CM000680.2:g.31252875T>C | GRCh38 |
| NC_000018.9:g.28832838T>C , CM000680.1:g.28832838T>C | GRCh37 |
| NC_000018.8:g.27086836T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_935335.1:n.334+1761T>C | ||
| XR_001753388.1:n.392+1706T>C | ||
| XR_935334.2:n.2098T>C |