gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.79825934 (NFE)
Genomes Max Group AF
0.79615856 (NFE)
Exomes Max Group AF
0.79789978 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.133538664T>C , CM000672.2:g.133538664T>C | GRCh38 |
| NC_000010.10:g.135352168T>C , CM000672.1:g.135352168T>C | GRCh37 |
| NC_000010.9:g.135202158T>C | NCBI36 |
| NG_008383.1:g.16302T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252945.8:c.1298-116T>C MANE Select | ENSP00000252945.3:n.1298-116T>C | |
| ENST00000252945.7:c.1298-116T>C | ENSP00000252945.3:n.1298-116T>C | |
| ENST00000368520.1:n.1358+772T>C | ||
| ENST00000418356.1:c.887-116T>C | ENSP00000397299.1:n.887-116T>C | |
| ENST00000421586.5:c.1037-116T>C | ENSP00000412754.1:n.1037-116T>C | |
| ENST00000463117.6:c.1298-116T>C | ENSP00000440689.1:n.1298-116T>C | |
| ENST00000469258.1:n.394-116T>C | ||
| ENST00000541080.5:c.714-116T>C | ||
| NM_000773.3:c.1298-116T>C | NP_000764.1:n.1298-116T>C | |
| NM_000773.4:c.1298-116T>C MANE Select | NP_000764.1:n.1298-116T>C |