gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.17233881 (EAS)
Genomes Max Group AF
0.17233881 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.69364320A>G , CM000676.2:g.69364320A>G | GRCh38 |
| NC_000014.8:g.69831037A>G , CM000676.1:g.69831037A>G | GRCh37 |
| NC_000014.7:g.68900790A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_011537005.1:c.*2+12150A>G | XP_011535307.1:n.*2+12150A>G | |
| XM_011537005.2:c.*2+12150A>G | XP_011535307.1:n.*2+12150A>G |