gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.68934029 (NFE)
Genomes Max Group AF
0.68934029 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.113112266C>A , CM000664.2:g.113112266C>A | GRCh38 |
| NC_000002.11:g.113869843C>A , CM000664.1:g.113869843C>A | GRCh37 |
| NC_000002.10:g.113586314C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409052.6:c.-387-734C>A | ENSP00000387210.1:n.-387-734C>A | |
| ENST00000463073.6:n.188-734C>A | ||
| ENST00000465812.6:n.532-734C>A | ||
| ENST00000409052.5:c.-387-734C>A | ENSP00000387210.1:n.-387-734C>A | |
| ENST00000463073.5:n.85-734C>A | ||
| ENST00000465812.5:n.257-734C>A | ||
| XM_011511121.1:c.-387-734C>A | XP_011509423.1:n.-387-734C>A |