Canonical Allele Identifier:
CA93117915
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00003764 (NFE)
Genomes Max Group AF
0.00003764 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.12578226C>A , CM000666.2:g.12578226C>A | GRCh38 |
| NC_000004.11:g.12579850C>A , CM000666.1:g.12579850C>A | GRCh37 |
| NC_000004.10:g.12188948C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_925406.1:n.106+31116G>T | ||
| XR_001741374.1:n.254+44429G>T | ||
| XR_925406.3:n.140+31116G>T |