gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.56412451 (SAS)
Genomes Max Group AF
0.58614468 (SAS)
Exomes Max Group AF
0.49228735 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.35229771C>T , CM000673.2:g.35229771C>T | GRCh38 |
| NC_000011.9:g.35251318C>T , CM000673.1:g.35251318C>T | GRCh37 |
| NC_000011.8:g.35207894C>T | NCBI36 |
| NG_008937.1:g.95902C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263398.11:c.*438C>T | ENSP00000263398.6:n.*438C>T | |
| ENST00000428726.8:c.*438C>T MANE Select | ENSP00000398632.2:n.*438C>T | |
| ENST00000263398.10:c.*438C>T | ENSP00000263398.6:n.*438C>T | |
| ENST00000425428.6:c.*1147C>T | ENSP00000395953.2:n.*1147C>T | |
| ENST00000428726.6:c.*438C>T | ENSP00000398632.2:n.*438C>T | |
| ENST00000433892.6:c.*438C>T | ENSP00000392331.2:n.*438C>T | |
| ENST00000525469.1:c.687C>T | ENSP00000434920.1:n.687C>T | |
| NM_000610.3:c.*438C>T | NP_000601.3:n.*438C>T | |
| NM_001001389.1:c.*438C>T | NP_001001389.1:n.*438C>T | |
| NM_001001390.1:c.*438C>T | NP_001001390.1:n.*438C>T | |
| NM_001001391.1:c.*438C>T | NP_001001391.1:n.*438C>T | |
| NM_001001392.1:c.*484C>T | NP_001001392.1:n.*484C>T | |
| NM_001202555.1:c.*438C>T | NP_001189484.1:n.*438C>T | |
| NM_001202556.1:c.*438C>T | NP_001189485.1:n.*438C>T | |
| XM_005253231.2:c.*438C>T | XP_005253288.1:n.*438C>T | |
| XM_005253232.2:c.*438C>T | XP_005253289.1:n.*438C>T | |
| XM_005253233.2:c.*438C>T | XP_005253290.1:n.*438C>T | |
| XM_005253234.2:c.*438C>T | XP_005253291.1:n.*438C>T | |
| XM_005253235.2:c.*438C>T | XP_005253292.1:n.*438C>T | |
| XM_005253238.2:c.*438C>T | XP_005253295.1:n.*438C>T | |
| XM_005253239.2:c.*438C>T | XP_005253296.1:n.*438C>T | |
| XM_005253240.2:c.*438C>T | XP_005253297.1:n.*438C>T | |
| XM_006718388.1:c.*438C>T | XP_006718451.1:n.*438C>T | |
| XM_011520482.1:c.*438C>T | XP_011518784.1:n.*438C>T | |
| XM_011520483.1:c.*438C>T | XP_011518785.1:n.*438C>T | |
| XM_011520484.1:c.*438C>T | XP_011518786.1:n.*438C>T | |
| XM_011520485.1:c.*438C>T | XP_011518787.1:n.*438C>T | |
| XM_011520486.1:c.*438C>T | XP_011518788.1:n.*438C>T | |
| XM_011520488.1:c.*438C>T | XP_011518790.1:n.*438C>T | |
| XM_005253231.3:c.*438C>T | XP_005253288.1:n.*438C>T | |
| XM_005253232.3:c.*438C>T | XP_005253289.1:n.*438C>T | |
| XM_005253235.3:c.*438C>T | XP_005253292.1:n.*438C>T | |
| XM_005253238.3:c.*438C>T | XP_005253295.1:n.*438C>T | |
| XM_005253239.3:c.*438C>T | XP_005253296.1:n.*438C>T | |
| XM_005253240.3:c.*438C>T | XP_005253297.1:n.*438C>T | |
| XM_006718388.2:c.*438C>T | XP_006718451.1:n.*438C>T | |
| XM_011520482.2:c.*438C>T | XP_011518784.1:n.*438C>T | |
| XM_011520483.2:c.*438C>T | XP_011518785.1:n.*438C>T | |
| XM_011520484.2:c.*438C>T | XP_011518786.1:n.*438C>T | |
| XM_011520485.2:c.*438C>T | XP_011518787.1:n.*438C>T | |
| XM_011520486.2:c.*438C>T | XP_011518788.1:n.*438C>T | |
| XM_011520488.2:c.*438C>T | XP_011518790.1:n.*438C>T | |
| XM_017018583.2:c.*438C>T | XP_016874072.1:n.*438C>T | |
| XM_017018584.2:c.*438C>T | XP_016874073.1:n.*438C>T | |
| XM_017018585.2:c.*438C>T | XP_016874074.1:n.*438C>T | |
| NM_000610.4:c.*438C>T MANE Select | NP_000601.3:n.*438C>T | |
| NM_001001389.2:c.*438C>T | NP_001001389.1:n.*438C>T | |
| NM_001001390.2:c.*438C>T | NP_001001390.1:n.*438C>T | |
| NM_001001391.2:c.*438C>T | NP_001001391.1:n.*438C>T | |
| NM_001001392.2:c.*484C>T | NP_001001392.1:n.*484C>T | |
| NM_001202555.2:c.*438C>T | NP_001189484.1:n.*438C>T | |
| NM_001202556.2:c.*438C>T | NP_001189485.1:n.*438C>T |