Canonical Allele Identifier:
CA15969531
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.14759971 (SAS)
Genomes Max Group AF
0.14759971 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.35166602G>A , CM000682.2:g.35166602G>A | GRCh38 |
| NC_000020.10:g.33754405G>A , CM000682.1:g.33754405G>A | GRCh37 |
| NC_000020.9:g.33218066G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NM_001355008.1:c.-101-731C>T | NP_001341937.1:n.-101-731C>T | |
| NM_001355008.2:c.-101-731C>T | NP_001341937.1:n.-101-731C>T |