gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00005433 (AMR)
Genomes Max Group AF
0.00005284 (AMR)
Exomes Max Group AF
0.00002985 (AMR)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.8745795C>T , CM000665.2:g.8745795C>T | GRCh38 |
| NC_000003.11:g.8787481C>T , CM000665.1:g.8787481C>T | GRCh37 |
| NC_000003.10:g.8762481C>T | NCBI36 |
| NG_008797.2:g.16986C>T , LRG_329:g.16986C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000343849.3:c.384C>T MANE Select | ENSP00000341940.2:p.Phe128= | |
| ENST00000343849.2:c.384C>T | ENSP00000341940.2:p.Phe128= | |
| ENST00000397368.2:c.384C>T | ENSP00000380525.2:p.Phe128= | |
| ENST00000472766.1:n.155+11805C>T | ||
| NM_001234.4:c.384C>T | NP_001225.1:p.Phe128= | |
| NM_033337.2:c.384C>T , LRG_329t1:c.384C>T | NP_203123.1:p.Phe128= | |
| NM_001234.5:c.384C>T | NP_001225.1:p.Phe128= | |
| NM_033337.3:c.384C>T MANE Select | NP_203123.1:p.Phe128= |