Canonical Allele Identifier:
CA15767030
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.15632345 (NFE)
Genomes Max Group AF
0.15632345 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.106556917T>C , CM000674.2:g.106556917T>C | GRCh38 |
| NC_000012.11:g.106950695T>C , CM000674.1:g.106950695T>C | GRCh37 |
| NC_000012.10:g.105474825T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_040246.1:n.143-49107A>G |