gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.53224816 (NFE)
Genomes Max Group AF
0.53224816 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.29596192T>C , CM000677.2:g.29596192T>C | GRCh38 |
| NC_000015.9:g.29888396T>C , CM000677.1:g.29888396T>C | GRCh37 |
| NC_000015.8:g.27675688T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NM_001387215.1:c.-70+78907A>G | NP_001374144.1:n.-70+78907A>G | |
| NM_001387216.1:c.-70+78907A>G | NP_001374145.1:n.-70+78907A>G | |
| NM_001387217.1:c.-70+78907A>G | NP_001374146.1:n.-70+78907A>G |