Canonical Allele Identifier:
CA12332017
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.48437226 (AFR)
Genomes Max Group AF
0.48437226 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.105805124T>C , CM000668.2:g.105805124T>C | GRCh38 |
| NC_000006.11:g.106252999T>C , CM000668.1:g.106252999T>C | GRCh37 |
| NC_000006.10:g.106359692T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_942835.1:n.510+24933A>G | ||
| XR_001744274.1:n.438+24933A>G | ||
| XR_001744275.1:n.337+24933A>G |