Canonical Allele Identifier:
CA12900870
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.37508699 (EAS)
Genomes Max Group AF
0.37508699 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.134866916T>C , CM000670.2:g.134866916T>C | GRCh38 |
| NC_000008.10:g.135879159T>C , CM000670.1:g.135879159T>C | GRCh37 |
| NC_000008.9:g.135948341T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_125427.1:n.1697-14268T>C |