Canonical Allele Identifier:
CA14070523
Gene:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.50171437 (AFR)
Genomes Max Group AF
0.50171437 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.85151040G>T , CM000676.2:g.85151040G>T | GRCh38 |
| NC_000014.8:g.85617384G>T , CM000676.1:g.85617384G>T | GRCh37 |
| NC_000014.7:g.84687137G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_944102.1:n.1596-2084C>A |