Canonical Allele Identifier:
CA15909419
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.50195524 (AFR)
Genomes Max Group AF
0.50195524 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.32946860T>C , CM000679.2:g.32946860T>C | GRCh38 |
| NC_000017.10:g.31273878T>C , CM000679.1:g.31273878T>C | GRCh37 |
| NC_000017.9:g.28297991T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_429943.2:n.359-981T>C | ||
| XR_429944.2:n.359-1017T>C | ||
| XR_934679.1:n.2213T>C | ||
| XR_934680.1:n.359-281T>C | ||
| XR_429943.3:n.359-981T>C | ||
| XR_429944.3:n.359-1017T>C |