gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.74546287 (SAS)
Genomes Max Group AF
0.74546287 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.28351523A>G , CM000669.2:g.28351523A>G | GRCh38 |
| NC_000007.13:g.28391142A>G , CM000669.1:g.28391142A>G | GRCh37 |
| NC_000007.12:g.28357667A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396299.6:c.-25+52082A>G | ENSP00000379593.2:n.-25+52082A>G | |
| NM_182899.4:c.-25+52082A>G | NP_878902.2:n.-25+52082A>G | |
| NM_182899.5:c.-25+52082A>G | NP_878902.2:n.-25+52082A>G |