gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.82069873 (NFE)
Genomes Max Group AF
0.82069873 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.44096224C>T , CM000681.2:g.44096224C>T | GRCh38 |
| NC_000019.9:g.44600377C>T , CM000681.1:g.44600377C>T | GRCh37 |
| NC_000019.8:g.49292217C>T | NCBI36 |
| NG_051221.1:g.6896C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684943.1:c.-68-1582C>T | ENSP00000509045.1:n.-68-1582C>T | |
| ENST00000693561.1:c.-157-119C>T MANE Select | ENSP00000508532.1:n.-157-119C>T | |
| ENST00000336976.10:c.-157-119C>T | ENSP00000337368.5:n.-157-119C>T | |
| ENST00000586978.1:n.375-119C>T | ||
| ENST00000589680.5:c.-157-119C>T | ENSP00000465000.1:n.-157-119C>T | |
| ENST00000589870.5:c.-276C>T | ENSP00000465886.1:n.-276C>T | |
| ENST00000590614.5:n.103-119C>T | ||
| NM_013398.2:c.-157-119C>T | NP_037530.2:n.-157-119C>T | |
| XM_005259221.2:c.-157-119C>T | XP_005259278.1:n.-157-119C>T | |
| NM_001321645.1:c.-157-119C>T | NP_001308574.1:n.-157-119C>T | |
| NM_013398.3:c.-157-119C>T | NP_037530.2:n.-157-119C>T | |
| XM_017027261.2:c.-276C>T | XP_016882750.1:n.-276C>T | |
| NM_001321645.2:c.-157-119C>T | NP_001308574.1:n.-157-119C>T | |
| NM_013398.4:c.-157-119C>T | NP_037530.2:n.-157-119C>T | |
| NM_001321645.3:c.-157-119C>T MANE Select | NP_001308574.1:n.-157-119C>T | |
| NM_013398.5:c.-157-119C>T | NP_037530.2:n.-157-119C>T |