gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.38165558 (NFE)
Genomes Max Group AF
0.38166807 (NFE)
Exomes Max Group AF
0.26026465 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.119781188C>T , CM000665.2:g.119781188C>T | GRCh38 |
| NC_000003.11:g.119500035C>T , CM000665.1:g.119500035C>T | GRCh37 |
| NC_000003.10:g.120982725C>T | NCBI36 |
| NG_011856.1:g.5705C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000466380.6:c.-1135C>T | ENSP00000420297.2:n.-1135C>T | |
| ENST00000648112.1:c.*2-26041C>T | ENSP00000497876.1:n.*2-26041C>T | |
| ENST00000393716.6:c.-1135C>T | ENSP00000377319.2:n.-1135C>T | |
| ENST00000466380.5:c.-1135C>T | ENSP00000420297.1:n.-1135C>T | |
| NM_003889.3:c.-1135C>T | NP_003880.3:n.-1135C>T | |
| NM_033013.2:c.-1135C>T | NP_148934.1:n.-1135C>T |