Canonical Allele Identifier:
CA16281005
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.83858826 (AFR)
Genomes Max Group AF
0.83858826 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.134817852C>A , CM000668.2:g.134817852C>A | GRCh38 |
| NC_000006.11:g.135138990C>A , CM000668.1:g.135138990C>A | GRCh37 |
| NC_000006.10:g.135180683C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_943008.1:n.313-12059G>T | ||
| XR_943009.1:n.313-12059G>T | ||
| XR_001744363.1:n.359-12059G>T | ||
| XR_001744364.1:n.287-12059G>T |