Canonical Allele Identifier:
CA12315739
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.45808887 (AFR)
Genomes Max Group AF
0.45808887 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.14598589T>C , CM000668.2:g.14598589T>C | GRCh38 |
| NC_000006.11:g.14598820T>C , CM000668.1:g.14598820T>C | GRCh37 |
| NC_000006.10:g.14706799T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_241980.2:n.232-990A>G | ||
| XR_926515.1:n.232-990A>G | ||
| XR_926516.1:n.183-990A>G | ||
| XR_926517.1:n.143-990A>G | ||
| XR_001743989.1:n.185-990A>G | ||
| XR_001743990.1:n.185-990A>G | ||
| XR_001743991.1:n.185-990A>G | ||
| XR_001743992.1:n.618-990A>G | ||
| XR_001743993.1:n.185-990A>G | ||
| XR_241980.3:n.480-990A>G | ||
| XR_926516.2:n.185-990A>G |