gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.63536001 (EAS)
Genomes Max Group AF
0.63536001 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.230716370T>C , CM000663.2:g.230716370T>C | GRCh38 |
| NC_000001.10:g.230852116T>C , CM000663.1:g.230852116T>C | GRCh37 |
| NC_000001.9:g.228918739T>C | NCBI36 |
| NG_008836.1:g.3221A>G | |
| NG_008836.2:g.3221A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000681269.1:c.-30-5517A>G | ENSP00000505985.1:n.-30-5517A>G | |
| NM_001382817.3:c.-30-5517A>G | NP_001369746.2:n.-30-5517A>G |