gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.81548613 (EAS)
Genomes Max Group AF
0.81548613 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.44581778A>G , CM000673.2:g.44581778A>G | GRCh38 |
| NC_000011.9:g.44603328A>G , CM000673.1:g.44603328A>G | GRCh37 |
| NC_000011.8:g.44559904A>G | NCBI36 |
| NG_023234.1:g.21188A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000227155.9:c.-102-5697A>G MANE Select | ENSP00000227155.4:n.-102-5697A>G | |
| ENST00000227155.8:c.-102-5697A>G | ENSP00000227155.4:n.-102-5697A>G | |
| ENST00000342935.7:c.-102-5697A>G | ENSP00000339686.3:n.-102-5697A>G | |
| ENST00000524704.5:c.-102-5697A>G | ENSP00000436403.1:n.-102-5697A>G | |
| ENST00000525210.5:c.-279-5697A>G | ENSP00000435661.1:n.-279-5697A>G | |
| ENST00000525813.5:c.-102-5697A>G | ENSP00000433804.1:n.-102-5697A>G | |
| ENST00000525898.5:n.71-5697A>G | ||
| ENST00000526958.5:c.22-5697A>G | ENSP00000435682.1:n.22-5697A>G | |
| ENST00000527737.5:c.-60-3365A>G | ENSP00000433151.1:n.-60-3365A>G | |
| ENST00000529277.5:n.96-5697A>G | ||
| ENST00000532544.5:c.-102-5697A>G | ENSP00000431767.1:n.-102-5697A>G | |
| NM_001024844.1:c.-102-5697A>G | NP_001020015.1:n.-102-5697A>G | |
| NM_002231.3:c.-102-5697A>G | NP_002222.1:n.-102-5697A>G | |
| XM_006718222.1:c.22-5697A>G | XP_006718285.1:n.22-5697A>G | |
| XM_006718223.1:c.-102-5697A>G | XP_006718286.1:n.-102-5697A>G | |
| XM_006718223.2:c.-102-5697A>G | XP_006718286.1:n.-102-5697A>G | |
| NM_002231.4:c.-102-5697A>G MANE Select | NP_002222.1:n.-102-5697A>G | |
| NM_001024844.2:c.-102-5697A>G | NP_001020015.1:n.-102-5697A>G |