Canonical Allele Identifier:
CA14624152
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.31584868 (SAS)
Genomes Max Group AF
0.31584868 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.60295884T>C , CM000680.2:g.60295884T>C | GRCh38 |
| NC_000018.9:g.57963117T>C , CM000680.1:g.57963117T>C | GRCh37 |
| NC_000018.8:g.56114097T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_935553.1:n.234+1211T>C | ||
| XR_935554.1:n.494T>C |