Canonical Allele Identifier:
CA56140068
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.67568294 (AFR)
Genomes Max Group AF
0.67568294 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.129409778T>C , CM000664.2:g.129409778T>C | GRCh38 |
| NC_000002.11:g.130167351T>C , CM000664.1:g.130167351T>C | GRCh37 |
| NC_000002.10:g.129883821T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_923322.1:n.167+7093T>C |