Canonical Allele Identifier:
CA11180609
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.61465452 (EAS)
Genomes Max Group AF
0.61465452 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.20488758C>T , CM000664.2:g.20488758C>T | GRCh38 |
| NC_000002.11:g.20688519C>T , CM000664.1:g.20688519C>T | GRCh37 |
| NC_000002.10:g.20552000C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_157978.1:n.510G>A |