Canonical Allele Identifier:
CA12375232
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.57167683 (AFR)
Genomes Max Group AF
0.57167683 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.105881180C>T , CM000668.2:g.105881180C>T | GRCh38 |
| NC_000006.11:g.106329055C>T , CM000668.1:g.106329055C>T | GRCh37 |
| NC_000006.10:g.106435748C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_942835.1:n.373+3846G>A | ||
| XR_001744274.1:n.301+3846G>A | ||
| XR_001744275.1:n.200+3846G>A | ||
| XR_001744276.1:n.301+3846G>A |