Canonical Allele Identifier:
CA93117921
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00038041 (EAS)
Genomes Max Group AF
0.00038041 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.12578258A>C , CM000666.2:g.12578258A>C | GRCh38 |
| NC_000004.11:g.12579882A>C , CM000666.1:g.12579882A>C | GRCh37 |
| NC_000004.10:g.12188980A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_925406.1:n.106+31084T>G | ||
| XR_001741374.1:n.254+44397T>G | ||
| XR_925406.3:n.140+31084T>G |