gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.50268511 (SAS)
Genomes Max Group AF
0.49559979 (SAS)
Exomes Max Group AF
0.51599282 (SAS)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.38468528G>A , CM000670.2:g.38468528G>A | GRCh38 |
| NC_000008.10:g.38326046G>A , CM000670.1:g.38326046G>A | GRCh37 |
| NC_000008.9:g.38445203G>A | NCBI36 |
| NG_007729.1:g.5307C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703405.1:c.-636C>T | ENSP00000515291.1:n.-636C>T | |
| ENST00000341462.9:c.-636C>T | ENSP00000340636.7:n.-636C>T | |
| ENST00000683276.1:n.74C>T | ||
| ENST00000683765.1:c.-636C>T | ENSP00000507039.1:n.-636C>T | |
| ENST00000683795.1:n.74C>T | ||
| ENST00000683815.1:c.-636C>T | ENSP00000507997.1:n.-636C>T | |
| ENST00000683948.1:n.74C>T | ||
| ENST00000684654.1:c.-636C>T | ENSP00000507205.1:n.-636C>T | |
| ENST00000447712.7:c.-636C>T MANE Select | ENSP00000400162.2:n.-636C>T | |
| ENST00000326324.10:c.-636C>T | ENSP00000327229.6:n.-636C>T | |
| ENST00000335922.9:c.-728C>T | ENSP00000337247.5:n.-728C>T | |
| ENST00000341462.8:c.-636C>T | ENSP00000340636.6:n.-636C>T | |
| ENST00000356207.9:c.-636C>T | ENSP00000348537.5:n.-636C>T | |
| ENST00000397091.9:c.-636C>T | ENSP00000380280.5:n.-636C>T | |
| ENST00000447712.6:c.-636C>T | ENSP00000400162.2:n.-636C>T | |
| ENST00000496296.5:n.108C>T | ||
| ENST00000532791.5:c.-636C>T | ENSP00000432972.1:n.-636C>T | |
| ENST00000619564.3:c.-636C>T | ENSP00000484553.1:n.-636C>T | |
| NM_001174063.1:c.-636C>T | NP_001167534.1:n.-636C>T | |
| NM_001174064.1:c.-728C>T | NP_001167535.1:n.-728C>T | |
| NM_015850.3:c.-636C>T | NP_056934.2:n.-636C>T | |
| NM_023105.2:c.-636C>T | NP_075593.1:n.-636C>T | |
| NM_023106.2:c.-636C>T | NP_075594.1:n.-636C>T | |
| NM_023110.2:c.-636C>T | NP_075598.2:n.-636C>T | |
| XM_006716303.2:c.-636C>T | XP_006716366.1:n.-636C>T | |
| XM_006716306.2:c.-636C>T | XP_006716369.1:n.-636C>T | |
| XM_006716310.2:c.-636C>T | XP_006716373.1:n.-636C>T | |
| XM_006716313.2:c.-636C>T | XP_006716376.1:n.-636C>T | |
| NM_001354367.1:c.-636C>T | NP_001341296.1:n.-636C>T | |
| NM_001354368.1:c.-636C>T | NP_001341297.1:n.-636C>T | |
| NM_001354370.1:c.-636C>T | NP_001341299.1:n.-636C>T | |
| XM_006716303.3:c.-636C>T | XP_006716366.1:n.-636C>T | |
| XM_006716310.3:c.-636C>T | XP_006716373.1:n.-636C>T | |
| XM_017013224.2:c.-636C>T | XP_016868713.1:n.-636C>T | |
| NM_001174063.2:c.-636C>T | NP_001167534.1:n.-636C>T | |
| NM_001174064.2:c.-728C>T | NP_001167535.1:n.-728C>T | |
| NM_001354368.2:c.-636C>T | NP_001341297.1:n.-636C>T | |
| NM_015850.4:c.-636C>T | NP_056934.2:n.-636C>T | |
| NM_023105.3:c.-636C>T | NP_075593.1:n.-636C>T | |
| NM_023106.3:c.-636C>T | NP_075594.1:n.-636C>T | |
| NM_023110.3:c.-636C>T MANE Select | NP_075598.2:n.-636C>T | |
| NM_001354367.2:c.-636C>T | NP_001341296.1:n.-636C>T | |
| NM_001354370.2:c.-636C>T | NP_001341299.1:n.-636C>T |