gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00101874 (SAS)
Genomes Max Group AF
0.00097158 (SAS)
Exomes Max Group AF
0.00046599 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.224473951T>C , CM000664.2:g.224473951T>C | GRCh38 |
| NC_000002.11:g.225338668T>C , CM000664.1:g.225338668T>C | GRCh37 |
| NC_000002.10:g.225046912T>C | NCBI36 |
| NG_032169.1:g.116447A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264414.9:c.*294A>G MANE Select | ENSP00000264414.4:n.*294A>G | |
| ENST00000264414.8:c.*294A>G | ENSP00000264414.4:n.*294A>G | |
| ENST00000344951.8:c.*294A>G | ENSP00000343601.4:n.*294A>G | |
| ENST00000409096.5:c.*294A>G | ENSP00000387200.1:n.*294A>G | |
| ENST00000409777.5:c.*294A>G | ENSP00000386525.1:n.*294A>G | |
| ENST00000454323.1:c.647A>G | ENSP00000400558.1:n.647A>G | |
| ENST00000497715.1:n.2351A>G | ||
| ENST00000617432.4:c.*294A>G | ENSP00000477851.1:n.*294A>G | |
| NM_001257197.1:c.*294A>G | NP_001244126.1:n.*294A>G | |
| NM_001257198.1:c.*294A>G | NP_001244127.1:n.*294A>G | |
| NM_003590.4:c.*294A>G | NP_003581.1:n.*294A>G | |
| XM_006712800.2:c.*294A>G | XP_006712863.2:n.*294A>G | |
| XM_011511994.1:c.*294A>G | XP_011510296.1:n.*294A>G | |
| XM_011511995.1:c.*294A>G | XP_011510297.1:n.*294A>G | |
| XM_011511996.1:c.*294A>G | XP_011510298.1:n.*294A>G | |
| XM_011511997.1:c.*294A>G | XP_011510299.1:n.*294A>G | |
| XM_011511994.3:c.*294A>G | XP_011510296.1:n.*294A>G | |
| XM_011511996.2:c.*294A>G | XP_011510298.1:n.*294A>G | |
| NM_003590.5:c.*294A>G MANE Select | NP_003581.1:n.*294A>G | |
| NM_001257198.2:c.*294A>G | NP_001244127.1:n.*294A>G | |
| NM_001257197.2:c.*294A>G | NP_001244126.1:n.*294A>G |