gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.22631182 (NFE)
Genomes Max Group AF
0.22631182 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.35301275C>T , CM000683.2:g.35301275C>T | GRCh38 |
| NC_000021.8:g.36673573C>T , CM000683.1:g.36673573C>T | GRCh37 |
| NC_000021.7:g.35595443C>T | NCBI36 |
| NG_011402.2:g.688436G>A , LRG_482:g.688436G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000475045.6:c.-197+160686G>A | ENSP00000477072.1:n.-197+160686G>A |