Canonical Allele Identifier:
CA15441064
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.49878653 (AFR)
Genomes Max Group AF
0.49878653 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.121810339T>C , CM000668.2:g.121810339T>C | GRCh38 |
| NC_000006.11:g.122131485T>C , CM000668.1:g.122131485T>C | GRCh37 |
| NC_000006.10:g.122173184T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_942936.1:n.240+42724T>C | ||
| XR_942937.1:n.240+42724T>C | ||
| XR_942938.1:n.240+42724T>C | ||
| XR_942939.1:n.240+42724T>C | ||
| XR_942940.1:n.240+42724T>C | ||
| XR_942941.1:n.240+42724T>C | ||
| XR_942936.2:n.240+42724T>C | ||
| XR_942937.3:n.240+42724T>C |