Canonical Allele Identifier:
CA14119853
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.15617548 (SAS)
Genomes Max Group AF
0.15617548 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.61708933A>C , CM000677.2:g.61708933A>C | GRCh38 |
| NC_000015.9:g.62001132A>C , CM000677.1:g.62001132A>C | GRCh37 |
| NC_000015.8:g.59788424A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_001751569.1:n.77+6182T>G |