Canonical Allele Identifier:
CA15309379
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.39831337 (AFR)
Genomes Max Group AF
0.39831337 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.89681893A>G , CM000666.2:g.89681893A>G | GRCh38 |
| NC_000004.11:g.90603044A>G , CM000666.1:g.90603044A>G | GRCh37 |
| NC_000004.10:g.90822067A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_938984.1:n.210+209A>G | ||
| XR_938985.1:n.210+209A>G | ||
| XR_938986.1:n.435-9392A>G | ||
| XR_938987.1:n.689-9392A>G | ||
| XR_938988.1:n.555-9392A>G | ||
| XR_938989.1:n.210+209A>G | ||
| XR_938990.1:n.299-9392A>G | ||
| XR_938991.1:n.435-37933A>G | ||
| XR_938993.1:n.210+209A>G | ||
| XR_938994.1:n.780-9392A>G | ||
| XR_938995.1:n.614-9392A>G | ||
| XR_001741765.1:n.228+213A>G | ||
| XR_001741766.1:n.232+209A>G | ||
| XR_938984.2:n.232+209A>G | ||
| XR_938985.2:n.232+209A>G | ||
| XR_938986.2:n.460-9392A>G | ||
| XR_938987.2:n.749-9392A>G | ||
| XR_938989.2:n.232+209A>G |