Canonical Allele Identifier:
CA12739268
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.66129827 (AFR)
Genomes Max Group AF
0.66129827 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.126769195T>G , CM000670.2:g.126769195T>G | GRCh38 |
| NC_000008.10:g.127781440T>G , CM000670.1:g.127781440T>G | GRCh37 |
| NC_000008.9:g.127850622T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_928636.1:n.324+205A>C | ||
| XR_928637.1:n.324+205A>C | ||
| XR_928638.1:n.282+205A>C | ||
| XR_001746076.2:n.1181+55521T>G | ||
| XR_001746077.2:n.1181+55521T>G | ||
| XR_001746078.2:n.1182-24586T>G | ||
| XR_001746079.2:n.1182-24590T>G | ||
| XR_001746084.1:n.3594+205A>C | ||
| XR_928636.2:n.3413+205A>C | ||
| XR_928638.2:n.3371+205A>C |