ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00083089 (NFE)
Genomes Max Group AF
0.00090757 (EAS)
Exomes Max Group AF
0.00083232 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.8745687C>T , CM000665.2:g.8745687C>T | GRCh38 |
| NC_000003.11:g.8787373C>T , CM000665.1:g.8787373C>T | GRCh37 |
| NC_000003.10:g.8762373C>T | NCBI36 |
| NG_008797.2:g.16878C>T , LRG_329:g.16878C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000343849.3:c.276C>T MANE Select | ENSP00000341940.2:p.Phe92= | |
| ENST00000343849.2:c.276C>T | ENSP00000341940.2:p.Phe92= | |
| ENST00000397368.2:c.276C>T | ENSP00000380525.2:p.Phe92= | |
| ENST00000472766.1:n.155+11697C>T | ||
| NM_001234.4:c.276C>T | NP_001225.1:p.Phe92= | |
| NM_033337.2:c.276C>T , LRG_329t1:c.276C>T | NP_203123.1:p.Phe92= | |
| NM_001234.5:c.276C>T | NP_001225.1:p.Phe92= | |
| NM_033337.3:c.276C>T MANE Select | NP_203123.1:p.Phe92= |