Canonical Allele Identifier:
CA12286090
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.89183817 (AFR)
Genomes Max Group AF
0.89183817 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.169420286T>C , CM000668.2:g.169420286T>C | GRCh38 |
| NC_000006.11:g.169820381T>C , CM000668.1:g.169820381T>C | GRCh37 |
| NC_000006.10:g.169562306T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000648086.1:c.*875A>G | ENSP00000497979.1:n.*875A>G | |
| ENST00000650382.1:n.2014A>G |