Canonical Allele Identifier:
CA147815757
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.09001386 (NFE)
Genomes Max Group AF
0.09001386 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.127700658A>C , CM000668.2:g.127700658A>C | GRCh38 |
| NC_000006.11:g.128021803A>C , CM000668.1:g.128021803A>C | GRCh37 |
| NC_000006.10:g.128063496A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_002956393.1:n.2017T>G | ||
| XR_002956394.1:n.2017T>G |