gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00025215 (NFE)
Genomes Max Group AF
0.00014675 (NFE)
Exomes Max Group AF
0.00025414 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10141784C>T , CM000665.2:g.10141784C>T | GRCh38 |
| NC_000003.11:g.10183468C>T , CM000665.1:g.10183468C>T | GRCh37 |
| NC_000003.10:g.10158468C>T | NCBI36 |
| NG_008212.3:g.5150C>T , LRG_322:g.5150C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696153.1:c.-64C>T | ENSP00000512444.1:n.-64C>T | |
| ENST00000256474.3:c.-64C>T MANE Select | ENSP00000256474.3:n.-64C>T | |
| ENST00000256474.2:c.-64C>T | ENSP00000256474.2:n.-64C>T | |
| NM_000551.3:c.-64C>T , LRG_322t1:c.-64C>T | NP_000542.1:n.-64C>T | |
| NM_198156.2:c.-64C>T | NP_937799.1:n.-64C>T | |
| XM_011534078.1:c.-64C>T | XP_011532380.1:n.-64C>T | |
| NM_001354723.1:c.-64C>T | NP_001341652.1:n.-64C>T | |
| NM_000551.4:c.-64C>T MANE Select | NP_000542.1:n.-64C>T | |
| NM_001354723.2:c.-64C>T | NP_001341652.1:n.-64C>T | |
| NM_198156.3:c.-64C>T | NP_937799.1:n.-64C>T |