Canonical Allele Identifier:
CA256522961
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.63224059 (NFE)
Genomes Max Group AF
0.63224059 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.105596960T>C , CM000675.2:g.105596960T>C | GRCh38 |
| NC_000013.10:g.106249309T>C , CM000675.1:g.106249309T>C | GRCh37 |
| NC_000013.9:g.105047310T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_931698.1:n.632-23613A>G | ||
| XR_931699.2:n.629-23613A>G |