Canonical Allele Identifier:
CA263953291
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.17346826 (AFR)
Genomes Max Group AF
0.17346826 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.81168979C>T , CM000676.2:g.81168979C>T | GRCh38 |
| NC_000014.8:g.81635323C>T , CM000676.1:g.81635323C>T | GRCh37 |
| NC_000014.7:g.80705076C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_245790.3:n.1897+1130G>A | ||
| XR_944073.1:n.648+176C>T | ||
| XR_001751021.1:n.2564+1130G>A | ||
| XR_001751022.1:n.2564+1130G>A | ||
| XR_001751023.1:n.2564+1130G>A | ||
| XR_944073.2:n.1173+176C>T |