Canonical Allele Identifier:
CA201074697
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00003763 (NFE)
Genomes Max Group AF
0.00003763 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.134544468G>C , CM000671.2:g.134544468G>C | GRCh38 |
| NC_000009.11:g.137436314G>C , CM000671.1:g.137436314G>C | GRCh37 |
| NC_000009.10:g.136576135G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_109854.3:n.2568-452G>C | ||
| XR_930416.1:n.171-452G>C | ||
| XR_930417.1:n.342-452G>C | ||
| XR_109854.5:n.2497-452G>C | ||
| XR_930416.2:n.194-452G>C | ||
| XR_930417.2:n.365-452G>C |