Canonical Allele Identifier:
CA11784291
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.96068322 (EAS)
Genomes Max Group AF
0.96068322 (EAS)
Exomes Max Group AF
0.273776 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.89685446C>T , CM000666.2:g.89685446C>T | GRCh38 |
| NC_000004.11:g.90606597C>T , CM000666.1:g.90606597C>T | GRCh37 |
| NC_000004.10:g.90825620C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_938982.1:n.1812C>T | ||
| XR_938983.1:n.1812C>T | ||
| XR_938984.1:n.1212C>T | ||
| XR_938985.1:n.244C>T | ||
| XR_938986.1:n.435-5839C>T | ||
| XR_938987.1:n.689-5839C>T | ||
| XR_938988.1:n.555-5839C>T | ||
| XR_938989.1:n.210+3762C>T | ||
| XR_938990.1:n.299-5839C>T | ||
| XR_938991.1:n.435-34380C>T | ||
| XR_938993.1:n.211-1452C>T | ||
| XR_938994.1:n.780-5839C>T | ||
| XR_938995.1:n.614-5839C>T | ||
| XR_001741764.1:n.1812C>T | ||
| XR_001741765.1:n.1230C>T | ||
| XR_001741766.1:n.233-231C>T | ||
| XR_938982.2:n.1812C>T | ||
| XR_938984.2:n.1234C>T | ||
| XR_938985.2:n.266C>T | ||
| XR_938986.2:n.460-5839C>T | ||
| XR_938987.2:n.749-5839C>T | ||
| XR_938989.2:n.232+3762C>T |