gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00005813 (NFE)
Genomes Max Group AF
0.00001171 (NFE)
Exomes Max Group AF
0.00005907 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.39268016T>C , CM000666.2:g.39268016T>C | GRCh38 |
| NC_000004.11:g.39269636T>C , CM000666.1:g.39269636T>C | GRCh37 |
| NC_000004.10:g.38946031T>C | NCBI36 |
| NG_031813.1:g.90613T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399820.8:c.3283T>C MANE Select | ENSP00000382717.3:p.Leu1095= | |
| ENST00000399820.7:c.3283T>C | ENSP00000382717.3:p.Leu1095= | |
| ENST00000506869.5:c.*2864T>C | ENSP00000424319.1:n.*2864T>C | |
| ENST00000512095.5:n.2281T>C | ||
| NM_025132.3:c.3283T>C | NP_079408.3:p.Leu1095= | |
| XM_011513724.1:c.3295T>C | XP_011512026.1:p.Leu1099= | |
| XM_011513725.1:c.3229T>C | XP_011512027.1:p.Leu1077= | |
| XM_011513726.1:c.2815T>C | XP_011512028.1:p.Leu939= | |
| XM_011513727.1:c.2815T>C | XP_011512029.1:p.Leu939= | |
| XM_011513728.1:c.2803T>C | XP_011512030.1:p.Leu935= | |
| XR_925155.1:n.3359T>C | ||
| NM_001317924.1:c.2803T>C | NP_001304853.1:p.Leu935= | |
| XM_011513725.2:c.3229T>C | XP_011512027.1:p.Leu1077= | |
| XM_011513726.3:c.2815T>C | XP_011512028.1:p.Leu939= | |
| XM_017008501.1:c.2803T>C | XP_016863990.1:p.Leu935= | |
| XR_001741306.1:n.3359T>C | ||
| XR_001741307.1:n.3347T>C | ||
| XR_001741308.1:n.3359T>C | ||
| XR_001741309.1:n.3347T>C | ||
| XR_001741310.1:n.3347T>C | ||
| XR_001741311.2:n.3196T>C | ||
| NM_025132.4:c.3283T>C MANE Select | NP_079408.3:p.Leu1095= | |
| NM_001317924.2:c.2803T>C | NP_001304853.1:p.Leu935= |