gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00184724 (NFE)
Genomes Max Group AF
0.00184816 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.166375923G>A , CM000664.2:g.166375923G>A | GRCh38 |
| NC_000002.11:g.167232433G>A , CM000664.1:g.167232433G>A | GRCh37 |
| NC_000002.10:g.166940679G>A | NCBI36 |
| NG_012798.1:g.5065C>T , LRG_369:g.5065C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000452182.2:c.-316C>T | ENSP00000393141.2:n.-316C>T | |
| ENST00000454569.6:c.-277C>T | ENSP00000413212.2:n.-277C>T | |
| ENST00000472119.2:n.79C>T | ||
| ENST00000642356.2:c.-277C>T MANE Select | ENSP00000495601.1:n.-277C>T | |
| ENST00000303354.10:c.-277C>T | ENSP00000304748.7:n.-277C>T | |
| ENST00000409672.5:c.-277C>T | ENSP00000386306.1:n.-277C>T | |
| NM_002977.3:c.-277C>T , LRG_369t1:c.-277C>T | NP_002968.1:n.-277C>T | |
| XM_005246757.1:c.-277C>T | XP_005246814.1:n.-277C>T | |
| XM_011511616.1:c.-239C>T | XP_011509918.1:n.-239C>T | |
| XM_011511617.1:c.-277C>T | XP_011509919.1:n.-277C>T | |
| XM_011511618.1:c.-277C>T | XP_011509920.1:n.-277C>T | |
| XM_011511619.1:c.-277C>T | XP_011509921.1:n.-277C>T | |
| NM_001365536.1:c.-277C>T MANE Select | NP_001352465.1:n.-277C>T | |
| XM_011511616.3:c.-239C>T | XP_011509918.1:n.-239C>T | |
| XM_011511617.2:c.-277C>T | XP_011509919.1:n.-277C>T | |
| XM_011511618.2:c.-277C>T | XP_011509920.1:n.-277C>T | |
| XM_011511619.2:c.-277C>T | XP_011509921.1:n.-277C>T | |
| XR_001738886.1:n.38C>T |