Canonical Allele Identifier:
CA232154633
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.55512632 (NFE)
Genomes Max Group AF
0.55512632 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.4196717T>C , CM000674.2:g.4196717T>C | GRCh38 |
| NC_000012.11:g.4305883T>C , CM000674.1:g.4305883T>C | GRCh37 |
| NC_000012.10:g.4176144T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_931569.1:n.196+7020A>G | ||
| XR_931569.2:n.214+7020A>G |