gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.59433145 (NFE)
Genomes Max Group AF
0.59433145 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.60490561C>T , CM000676.2:g.60490561C>T | GRCh38 |
| NC_000014.8:g.60957279C>T , CM000676.1:g.60957279C>T | GRCh37 |
| NC_000014.7:g.60027032C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000556799.1:c.-8-5475G>A | ENSP00000451441.1:n.-8-5475G>A | |
| XM_017021250.2:c.-5+8735G>A | XP_016876739.1:n.-5+8735G>A |