gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00395398 (EAS)
Genomes Max Group AF
0.00271702 (EAS)
Exomes Max Group AF
0.0039739 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.42766645G>A , CM000663.2:g.42766645G>A | GRCh38 |
| NC_000001.10:g.43232316G>A , CM000663.1:g.43232316G>A | GRCh37 |
| NC_000001.9:g.43004903G>A | NCBI36 |
| NG_008123.1:g.5440C>T , LRG_5:g.5440C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296388.10:c.327C>T MANE Select | ENSP00000296388.5:p.Phe109= | |
| ENST00000236040.8:c.327C>T | ENSP00000236040.4:p.Phe109= | |
| ENST00000296388.9:c.327C>T | ENSP00000296388.5:p.Phe109= | |
| ENST00000372526.2:c.327C>T | ENSP00000361604.2:p.Phe109= | |
| ENST00000397054.7:c.327C>T | ENSP00000380245.3:p.Phe109= | |
| ENST00000460031.5:n.345C>T | ||
| ENST00000492956.1:n.373C>T | ||
| ENST00000495874.5:n.378C>T | ||
| NM_001146289.1:c.327C>T , LRG_5t2:c.327C>T | NP_001139761.1:p.Phe109= | |
| NM_001243246.1:c.327C>T , LRG_5t3:c.327C>T | NP_001230175.1:p.Phe109= | |
| NM_022356.3:c.327C>T , LRG_5t1:c.327C>T | NP_071751.3:p.Phe109= | |
| XR_946739.1:n.384C>T | ||
| XM_017002051.2:c.-704C>T | XP_016857540.1:n.-704C>T | |
| XM_017002052.2:c.-704C>T | XP_016857541.1:n.-704C>T | |
| XR_946739.2:n.384C>T | ||
| NM_022356.4:c.327C>T MANE Select | NP_071751.3:p.Phe109= | |
| NM_001146289.2:c.327C>T | NP_001139761.1:p.Phe109= | |
| NM_001243246.2:c.327C>T | NP_001230175.1:p.Phe109= |