Canonical Allele Identifier:
CA15420223
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.84117073 (EAS)
Genomes Max Group AF
0.84117073 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.40319904T>C , CM000667.2:g.40319904T>C | GRCh38 |
| NC_000005.9:g.40320006T>C , CM000667.1:g.40320006T>C | GRCh37 |
| NC_000005.8:g.40355763T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_925937.1:n.251-6912A>G | ||
| XR_925940.1:n.251-6912A>G | ||
| XR_001742646.1:n.478+681A>G | ||
| XR_001742647.1:n.205-1632A>G | ||
| XR_001742649.1:n.205-6912A>G | ||
| XR_925938.2:n.205-1632A>G |