Canonical Allele Identifier:
CA11943652
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.58989591 (AFR)
Genomes Max Group AF
0.58989591 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132053814T>C , CM000667.2:g.132053814T>C | GRCh38 |
| NC_000005.9:g.131389507T>C , CM000667.1:g.131389507T>C | GRCh37 |
| NC_000005.8:g.131417406T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_948785.1:n.229-210A>G | ||
| XR_001742531.1:n.244-210A>G | ||
| XR_948785.2:n.252-210A>G |