Canonical Allele Identifier:
CA16174709
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.44415982 (AFR)
Genomes Max Group AF
0.44415982 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.12578222A>G , CM000666.2:g.12578222A>G | GRCh38 |
| NC_000004.11:g.12579846A>G , CM000666.1:g.12579846A>G | GRCh37 |
| NC_000004.10:g.12188944A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_925406.1:n.106+31120T>C | ||
| XR_001741374.1:n.254+44433T>C | ||
| XR_925406.3:n.140+31120T>C |