Revel Score:
ENST00000399820 (MANE Select)
0.750
ENST00000288634
0.750
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00193499 (NFE)
Genomes Max Group AF
0.00145296 (NFE)
Exomes Max Group AF
0.00195087 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.39274909C>T , CM000666.2:g.39274909C>T | GRCh38 |
| NC_000004.11:g.39276529C>T , CM000666.1:g.39276529C>T | GRCh37 |
| NC_000004.10:g.38952924C>T | NCBI36 |
| NG_031813.1:g.97506C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399820.8:c.3667C>T MANE Select | ENSP00000382717.3:p.Arg1223Cys | |
| ENST00000399820.7:c.3667C>T | ENSP00000382717.3:p.Arg1223Cys | |
| ENST00000506869.5:c.*3248C>T | ENSP00000424319.1:n.*3248C>T | |
| ENST00000512095.5:n.2665C>T | ||
| ENST00000512534.5:n.1978C>T | ||
| NM_025132.3:c.3667C>T | NP_079408.3:p.Arg1223Cys | |
| XM_011513724.1:c.3679C>T | XP_011512026.1:p.Arg1227Cys | |
| XM_011513725.1:c.3613C>T | XP_011512027.1:p.Arg1205Cys | |
| XM_011513726.1:c.3199C>T | XP_011512028.1:p.Arg1067Cys | |
| XM_011513727.1:c.3199C>T | XP_011512029.1:p.Arg1067Cys | |
| XM_011513728.1:c.3187C>T | XP_011512030.1:p.Arg1063Cys | |
| XR_925155.1:n.5377C>T | ||
| NM_001317924.1:c.3187C>T | NP_001304853.1:p.Arg1063Cys | |
| XM_011513725.2:c.3613C>T | XP_011512027.1:p.Arg1205Cys | |
| XM_011513726.3:c.3199C>T | XP_011512028.1:p.Arg1067Cys | |
| XM_017008501.1:c.3187C>T | XP_016863990.1:p.Arg1063Cys | |
| XR_001741306.1:n.3743C>T | ||
| XR_001741307.1:n.3731C>T | ||
| XR_001741308.1:n.5377C>T | ||
| XR_001741309.1:n.5365C>T | ||
| XR_001741310.1:n.5365C>T | ||
| XR_001741311.2:n.5214C>T | ||
| NM_025132.4:c.3667C>T MANE Select | NP_079408.3:p.Arg1223Cys | |
| NM_001317924.2:c.3187C>T | NP_001304853.1:p.Arg1063Cys |