COSMIC:
COSM149771 (not active)
Revel Score:
ENST00000296795 (MANE Select)
0.454
ENST00000513189
0.454
ENST00000542020
0.454
ENST00000504367
0.454
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.29845449 (AMR)
Genomes Max Group AF
0.30934843 (EAS)
Exomes Max Group AF
0.29759957 (NFE)
ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186082920C>T , CM000666.2:g.186082920C>T | GRCh38 |
| NC_000004.11:g.187004074C>T , CM000666.1:g.187004074C>T | GRCh37 |
| NC_000004.10:g.187241068C>T | NCBI36 |
| NG_007278.1:g.18766C>T , LRG_117:g.18766C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000508051.2:c.403C>T | ENSP00000513677.1:p.Leu135Phe | |
| ENST00000698351.1:c.864+370C>T | ENSP00000513674.1:n.864+370C>T | |
| ENST00000698352.1:c.*786C>T | ENSP00000513675.1:n.*786C>T | |
| ENST00000698353.1:n.1109C>T | ||
| ENST00000698354.1:c.403C>T | ENSP00000513676.1:p.Leu135Phe | |
| ENST00000296795.8:c.1234C>T MANE Select | ENSP00000296795.3:p.Leu412Phe | |
| ENST00000296795.7:c.1234C>T | ENSP00000296795.2:p.Leu412Phe | |
| ENST00000504367.1:c.403C>T | ENSP00000423684.1:p.Leu135Phe | |
| ENST00000512264.1:n.1310C>T | ||
| ENST00000513189.1:c.1042C>T | ENSP00000423386.1:p.Leu348Phe | |
| NM_003265.2:c.1234C>T , LRG_117t1:c.1234C>T | NP_003256.1:p.Leu412Phe | |
| NM_003265.3:c.1234C>T MANE Select | NP_003256.1:p.Leu412Phe |