Canonical Allele Identifier:
CA84195189
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.50226064 (EAS)
Genomes Max Group AF
0.50226064 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.135506407T>G , CM000665.2:g.135506407T>G | GRCh38 |
| NC_000003.11:g.135225249T>G , CM000665.1:g.135225249T>G | GRCh37 |
| NC_000003.10:g.136707939T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_924527.1:n.225+9743A>C | ||
| XR_924528.1:n.225+9743A>C | ||
| XR_001740926.1:n.229+9743A>C | ||
| XR_002959651.1:n.229+9743A>C | ||
| XR_924527.3:n.229+9743A>C | ||
| XR_924528.3:n.229+9743A>C |