Canonical Allele Identifier:
CA15344563
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.68355489 (AFR)
Genomes Max Group AF
0.68355489 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.89655739T>C , CM000666.2:g.89655739T>C | GRCh38 |
| NC_000004.11:g.90576890T>C , CM000666.1:g.90576890T>C | GRCh37 |
| NC_000004.10:g.90795913T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_938986.1:n.434+27822T>C | ||
| XR_938987.1:n.688+27822T>C | ||
| XR_938988.1:n.554+27822T>C | ||
| XR_938990.1:n.299-35546T>C | ||
| XR_938991.1:n.434+27822T>C | ||
| XR_938994.1:n.779+27822T>C | ||
| XR_938995.1:n.613+27822T>C | ||
| XR_938986.2:n.459+27822T>C | ||
| XR_938987.2:n.748+27822T>C |