Canonical Allele Identifier:
CA11584059
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.48356896 (NFE)
Genomes Max Group AF
0.48356896 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.106570103T>C , CM000665.2:g.106570103T>C | GRCh38 |
| NC_000003.11:g.106288950T>C , CM000665.1:g.106288950T>C | GRCh37 |
| NC_000003.10:g.107771640T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_427393.2:n.128-11317A>G | ||
| XR_002959629.1:n.759-11317A>G |