gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00060867 (SAS)
Genomes Max Group AF
0.00046871 (NFE)
Exomes Max Group AF
0.00061212 (SAS)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.39266128T>C , CM000666.2:g.39266128T>C | GRCh38 |
| NC_000004.11:g.39267748T>C , CM000666.1:g.39267748T>C | GRCh37 |
| NC_000004.10:g.38944143T>C | NCBI36 |
| NG_031813.1:g.88725T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399820.8:c.3249T>C MANE Select | ENSP00000382717.3:p.Asp1083= | |
| ENST00000399820.7:c.3249T>C | ENSP00000382717.3:p.Asp1083= | |
| ENST00000506869.5:c.*2830T>C | ENSP00000424319.1:n.*2830T>C | |
| ENST00000512095.5:n.2247T>C | ||
| NM_025132.3:c.3249T>C | NP_079408.3:p.Asp1083= | |
| XM_011513724.1:c.3261T>C | XP_011512026.1:p.Asp1087= | |
| XM_011513725.1:c.3195T>C | XP_011512027.1:p.Asp1065= | |
| XM_011513726.1:c.2781T>C | XP_011512028.1:p.Asp927= | |
| XM_011513727.1:c.2781T>C | XP_011512029.1:p.Asp927= | |
| XM_011513728.1:c.2769T>C | XP_011512030.1:p.Asp923= | |
| XR_925155.1:n.3325T>C | ||
| NM_001317924.1:c.2769T>C | NP_001304853.1:p.Asp923= | |
| XM_011513725.2:c.3195T>C | XP_011512027.1:p.Asp1065= | |
| XM_011513726.3:c.2781T>C | XP_011512028.1:p.Asp927= | |
| XM_017008501.1:c.2769T>C | XP_016863990.1:p.Asp923= | |
| XR_001741306.1:n.3325T>C | ||
| XR_001741307.1:n.3313T>C | ||
| XR_001741308.1:n.3325T>C | ||
| XR_001741309.1:n.3313T>C | ||
| XR_001741310.1:n.3313T>C | ||
| XR_001741311.2:n.3162T>C | ||
| NM_025132.4:c.3249T>C MANE Select | NP_079408.3:p.Asp1083= | |
| NM_001317924.2:c.2769T>C | NP_001304853.1:p.Asp923= |