gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.20838754 (AFR)
Genomes Max Group AF
0.20483963 (AFR)
Exomes Max Group AF
0.21058912 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.768807C>T , CM000678.2:g.768807C>T | GRCh38 |
| NC_000016.9:g.818807C>T , CM000678.1:g.818807C>T | GRCh37 |
| NC_000016.8:g.758808C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000545450.7:c.*74C>T MANE Select | ENSP00000442965.2:n.*74C>T | |
| ENST00000382862.7:c.*74C>T | ENSP00000372313.3:n.*74C>T | |
| ENST00000545450.6:c.*74C>T | ENSP00000442965.2:n.*74C>T | |
| ENST00000561896.1:c.1137C>T | ENSP00000457847.1:p.Pro379= | |
| ENST00000563941.5:c.*74C>T | ENSP00000456008.1:n.*74C>T | |
| ENST00000566549.5:c.*74C>T | ENSP00000456702.1:n.*74C>T | |
| ENST00000620831.4:c.*74C>T | ENSP00000482893.1:n.*74C>T | |
| NM_001177355.1:c.*74C>T | NP_001170826.1:n.*74C>T | |
| NM_005823.5:c.*74C>T | NP_005814.2:n.*74C>T | |
| NM_013404.4:c.*74C>T | NP_037536.2:n.*74C>T | |
| XM_005255034.3:c.*74C>T | XP_005255091.1:n.*74C>T | |
| XM_006720837.2:c.*74C>T | XP_006720900.1:n.*74C>T | |
| XM_011522346.1:c.*74C>T | XP_011520648.1:n.*74C>T | |
| XM_011522347.1:c.*74C>T | XP_011520649.1:n.*74C>T | |
| XM_011522348.1:c.*74C>T | XP_011520650.1:n.*74C>T | |
| XM_011522349.1:c.*74C>T | XP_011520651.1:n.*74C>T | |
| XM_011522350.1:c.*74C>T | XP_011520652.1:n.*74C>T | |
| NM_001177355.2:c.*74C>T | NP_001170826.1:n.*74C>T | |
| NM_005823.6:c.*74C>T MANE Select | NP_005814.2:n.*74C>T | |
| NM_001177355.3:c.*74C>T | NP_001170826.1:n.*74C>T |