Canonical Allele Identifier:
CA107997248
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.56952181 (AFR)
Genomes Max Group AF
0.56952181 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.148748354T>C , CM000666.2:g.148748354T>C | GRCh38 |
| NC_000004.11:g.149669506T>C , CM000666.1:g.149669506T>C | GRCh37 |
| NC_000004.10:g.149888956T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_001741441.1:n.1746-118403T>C |