Canonical Allele Identifier:
CA14684930
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.17343423 (NFE)
Genomes Max Group AF
0.17343423 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.17248726C>T , CM000681.2:g.17248726C>T | GRCh38 |
| NC_000019.9:g.17359535C>T , CM000681.1:g.17359535C>T | GRCh37 |
| NC_000019.8:g.17220535C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000594059.1:c.-83+2856G>A | ENSP00000473056.1:n.-83+2856G>A |