Canonical Allele Identifier:
CA16341996
Gene:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.79229349 (NFE)
Genomes Max Group AF
0.79229349 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.88981259C>T , CM000670.2:g.88981259C>T | GRCh38 |
| NC_000008.10:g.89993488C>T , CM000670.1:g.89993488C>T | GRCh37 |
| NC_000008.9:g.90062604C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_002956667.1:n.179-99198G>A |