Canonical Allele Identifier:
CA786695529
Gene:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000488 (NFE)
Genomes Max Group AF
0.00000488 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.12578131C>G , CM000666.2:g.12578131C>G | GRCh38 |
| NC_000004.11:g.12579755C>G , CM000666.1:g.12579755C>G | GRCh37 |
| NC_000004.10:g.12188853C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_925406.1:n.106+31211G>C | ||
| XR_001741374.1:n.254+44524G>C | ||
| XR_925406.3:n.140+31211G>C |