Canonical Allele Identifier:
CA12570423
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.45140361 (NFE)
Genomes Max Group AF
0.45140361 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.106731773C>G , CM000669.2:g.106731773C>G | GRCh38 |
| NC_000007.13:g.106372219C>G , CM000669.1:g.106372219C>G | GRCh37 |
| NC_000007.12:g.106159455C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_001745317.1:n.119+569G>C |