gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.39641024 (EAS)
Genomes Max Group AF
0.39641024 (EAS)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.209802047T>C , CM000663.2:g.209802047T>C | GRCh38 |
| NC_000001.10:g.209975392T>C , CM000663.1:g.209975392T>C | GRCh37 |
| NC_000001.9:g.208042015T>C | NCBI36 |
| NG_007081.2:g.9088A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696133.1:c.-75-4A>G | ENSP00000512426.1:n.-75-4A>G | |
| ENST00000696134.1:c.-75-4A>G | ENSP00000512427.1:n.-75-4A>G | |
| ENST00000367021.8:c.-75-4A>G MANE Select | ENSP00000355988.3:n.-75-4A>G | |
| ENST00000367021.7:c.-75-4A>G | ENSP00000355988.3:n.-75-4A>G | |
| ENST00000456314.1:c.-79A>G | ENSP00000403855.1:n.-79A>G | |
| ENST00000542854.5:c.-112+3900A>G | ENSP00000440532.1:n.-112+3900A>G | |
| NM_001206696.1:c.-112+3900A>G | NP_001193625.1:n.-112+3900A>G | |
| NM_006147.3:c.-75-4A>G | NP_006138.1:n.-75-4A>G | |
| NM_006147.4:c.-75-4A>G MANE Select | NP_006138.1:n.-75-4A>G | |
| NM_001206696.2:c.-112+3900A>G | NP_001193625.1:n.-112+3900A>G |