Canonical Allele Identifier:
CA87021463
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.64468541 (EAS)
Genomes Max Group AF
0.64468541 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.164044176A>G , CM000665.2:g.164044176A>G | GRCh38 |
| NC_000003.11:g.163761964A>G , CM000665.1:g.163761964A>G | GRCh37 |
| NC_000003.10:g.165244658A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_001740997.1:n.472-13480T>C | ||
| XR_427434.3:n.296-13480T>C |