Canonical Allele Identifier:
CA174890906
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.89920341 (EAS)
Genomes Max Group AF
0.89920341 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.31317314T>C , CM000670.2:g.31317314T>C | GRCh38 |
| NC_000008.10:g.31174830T>C , CM000670.1:g.31174830T>C | GRCh37 |
| NC_000008.9:g.31294372T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_247155.2:n.226+41506T>C | ||
| XR_949649.1:n.226+41506T>C | ||
| XR_949649.2:n.244+41506T>C |