COSMIC:
COSM1428947 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.34908035 (EAS)
Genomes Max Group AF
0.3219929 (EAS)
Exomes Max Group AF
0.35118337 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186083063C>T , CM000666.2:g.186083063C>T | GRCh38 |
| NC_000004.11:g.187004217C>T , CM000666.1:g.187004217C>T | GRCh37 |
| NC_000004.10:g.187241211C>T | NCBI36 |
| NG_007278.1:g.18909C>T , LRG_117:g.18909C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000508051.2:c.546C>T | ENSP00000513677.1:p.Phe182= | |
| ENST00000698351.1:c.864+513C>T | ENSP00000513674.1:n.864+513C>T | |
| ENST00000698352.1:c.*929C>T | ENSP00000513675.1:n.*929C>T | |
| ENST00000698353.1:n.1252C>T | ||
| ENST00000698354.1:c.546C>T | ENSP00000513676.1:p.Phe182= | |
| ENST00000296795.8:c.1377C>T MANE Select | ENSP00000296795.3:p.Phe459= | |
| ENST00000296795.7:c.1377C>T | ENSP00000296795.2:p.Phe459= | |
| ENST00000504367.1:c.546C>T | ENSP00000423684.1:p.Phe182= | |
| ENST00000512264.1:n.1453C>T | ||
| NM_003265.2:c.1377C>T , LRG_117t1:c.1377C>T | NP_003256.1:p.Phe459= | |
| NM_003265.3:c.1377C>T MANE Select | NP_003256.1:p.Phe459= |