gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.4817824 (EAS)
Genomes Max Group AF
0.4817824 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.79460126A>C , CM000664.2:g.79460126A>C | GRCh38 |
| NC_000002.11:g.79687252A>C , CM000664.1:g.79687252A>C | GRCh37 |
| NC_000002.10:g.79540760A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000466387.5:c.-134-44928A>C | ENSP00000418191.1:n.-134-44928A>C | |
| NM_001399737.1:c.-134-44928A>C | NP_001386666.1:n.-134-44928A>C |