Canonical Allele Identifier:
CA173996798
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.68669428 (EAS)
Genomes Max Group AF
0.68669428 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.23668950T>C , CM000670.2:g.23668950T>C | GRCh38 |
| NC_000008.10:g.23526463T>C , CM000670.1:g.23526463T>C | GRCh37 |
| NC_000008.9:g.23582408T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_001745840.1:n.1512T>C | ||
| XR_001745841.1:n.890T>C | ||
| XR_001745842.1:n.1312+200T>C | ||
| XR_001745843.1:n.1086T>C |