gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.98171875 (EAS)
Genomes Max Group AF
0.97168871 (EAS)
Exomes Max Group AF
0.98058925 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.113010483A>G , CM000674.2:g.113010483A>G | GRCh38 |
| NC_000012.11:g.113448288A>G , CM000674.1:g.113448288A>G | GRCh37 |
| NC_000012.10:g.111932671A>G | NCBI36 |
| NG_029692.1:g.37015A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392583.7:c.*1228A>G MANE Select | ENSP00000376362.3:n.*1228A>G | |
| ENST00000679877.1:c.*3981A>G | ENSP00000506110.1:n.*3981A>G | |
| ENST00000680122.1:c.*2503A>G | ENSP00000505194.1:n.*2503A>G | |
| ENST00000680138.1:c.*2120A>G | ENSP00000506262.1:n.*2120A>G | |
| ENST00000680898.1:n.3825A>G | ||
| ENST00000681023.1:n.3742A>G | ||
| ENST00000342315.8:c.2159A>G | ENSP00000342278.4:p.Ter720Trp | |
| ENST00000392583.6:c.*1228A>G | ENSP00000376362.2:n.*1228A>G | |
| ENST00000620097.1:c.2158-2A>G | ENSP00000483679.1:n.2158-2A>G | |
| NM_002535.2:c.*1228A>G | NP_002526.2:n.*1228A>G | |
| NM_016817.2:c.2159A>G | NP_058197.2:p.Ter720Trp | |
| XM_011538415.1:c.2069A>G | XP_011536717.1:p.Ter690Trp | |
| XR_001748725.2:n.3894A>G | ||
| NM_002535.3:c.*1228A>G MANE Select | NP_002526.2:n.*1228A>G | |
| NM_016817.3:c.2159A>G | NP_058197.2:p.Ter720Trp |