gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0025142 (NFE)
Genomes Max Group AF
0.0023436 (NFE)
Exomes Max Group AF
0.00250779 (NFE)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.39234873C>T , CM000666.2:g.39234873C>T | GRCh38 |
| NC_000004.11:g.39236493C>T , CM000666.1:g.39236493C>T | GRCh37 |
| NC_000004.10:g.38912888C>T | NCBI36 |
| NG_031813.1:g.57470C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399820.8:c.2361C>T MANE Select | ENSP00000382717.3:p.Phe787= | |
| ENST00000399820.7:c.2361C>T | ENSP00000382717.3:p.Phe787= | |
| ENST00000502718.1:n.107C>T | ||
| ENST00000506869.5:c.*1942C>T | ENSP00000424319.1:n.*1942C>T | |
| ENST00000507228.1:c.511C>T | ||
| ENST00000512095.5:n.1359C>T | ||
| ENST00000515631.1:n.551C>T | ||
| NM_025132.3:c.2361C>T | NP_079408.3:p.Phe787= | |
| XM_011513724.1:c.2373C>T | XP_011512026.1:p.Phe791= | |
| XM_011513725.1:c.2307C>T | XP_011512027.1:p.Phe769= | |
| XM_011513726.1:c.1893C>T | XP_011512028.1:p.Phe631= | |
| XM_011513727.1:c.1893C>T | XP_011512029.1:p.Phe631= | |
| XM_011513728.1:c.1881C>T | XP_011512030.1:p.Phe627= | |
| XM_011513729.1:c.2373C>T | XP_011512031.1:p.Phe791= | |
| XR_925155.1:n.2437C>T | ||
| NM_001317924.1:c.1881C>T | NP_001304853.1:p.Phe627= | |
| XM_011513725.2:c.2307C>T | XP_011512027.1:p.Phe769= | |
| XM_011513726.3:c.1893C>T | XP_011512028.1:p.Phe631= | |
| XM_017008501.1:c.1881C>T | XP_016863990.1:p.Phe627= | |
| XR_001741306.1:n.2437C>T | ||
| XR_001741307.1:n.2425C>T | ||
| XR_001741308.1:n.2437C>T | ||
| XR_001741309.1:n.2425C>T | ||
| XR_001741310.1:n.2425C>T | ||
| XR_001741311.2:n.2274C>T | ||
| XR_001741312.1:n.2461C>T | ||
| NM_025132.4:c.2361C>T MANE Select | NP_079408.3:p.Phe787= | |
| NM_001317924.2:c.1881C>T | NP_001304853.1:p.Phe627= |