Canonical Allele Identifier:
CA11335854
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.90460767 (AFR)
Genomes Max Group AF
0.90460767 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.53038991C>T , CM000664.2:g.53038991C>T | GRCh38 |
| NC_000002.11:g.53266129C>T , CM000664.1:g.53266129C>T | GRCh37 |
| NC_000002.10:g.53119633C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_002959384.1:n.124-128967G>A |