Revel Score:
ENST00000504156 (MANE Select)
0.674
ENST00000457527
0.674
ENST00000504366
0.674
ENST00000415192
0.674
ENST00000507746
0.674
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001221 (NFE)
Exomes Max Group AF
0.00001214 (NFE)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.140683144G>A , CM000667.2:g.140683144G>A | GRCh38 |
| NC_000005.9:g.140062729G>A , CM000667.1:g.140062729G>A | GRCh37 |
| NC_000005.8:g.140042913G>A | NCBI36 |
| NG_032158.1:g.13243C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000431330.7:c.181-5129C>T | ENSP00000393244.2:n.181-5129C>T | |
| ENST00000502888.2:n.305C>T | ||
| ENST00000504156.7:c.256C>T MANE Select | ENSP00000425634.1:p.Arg86Cys | |
| ENST00000506579.6:n.341C>T | ||
| ENST00000507746.7:c.256C>T | ENSP00000425889.2:p.Arg86Cys | |
| ENST00000509087.2:c.180+7711C>T | ENSP00000502781.1:n.180+7711C>T | |
| ENST00000512396.6:c.*195C>T | ENSP00000421576.1:n.*195C>T | |
| ENST00000518126.6:n.295C>T | ||
| ENST00000643686.1:c.*311C>T | ENSP00000493611.1:n.*311C>T | |
| ENST00000645491.1:c.*189C>T | ENSP00000494297.1:n.*189C>T | |
| ENST00000646229.1:c.307C>T | ||
| ENST00000674523.1:c.256C>T | ENSP00000501816.1:p.Arg86Cys | |
| ENST00000675094.1:n.341C>T | ||
| ENST00000675204.1:c.256C>T | ENSP00000501643.1:p.Arg86Cys | |
| ENST00000675355.1:n.101C>T | ||
| ENST00000675366.1:c.256C>T | ENSP00000501747.1:p.Arg86Cys | |
| ENST00000675698.1:c.94-3261C>T | ENSP00000501581.1:n.94-3261C>T | |
| ENST00000675763.1:n.1177C>T | ||
| ENST00000675827.1:c.256C>T | ENSP00000501900.1:p.Arg86Cys | |
| ENST00000675851.1:c.256C>T | ENSP00000502624.1:p.Arg86Cys | |
| ENST00000675967.1:n.730C>T | ||
| ENST00000676327.1:c.256C>T | ENSP00000502594.1:p.Arg86Cys | |
| ENST00000307633.7:c.181-3261C>T | ENSP00000304668.3:n.181-3261C>T | |
| ENST00000415192.6:c.256C>T | ENSP00000411085.2:p.Arg86Cys | |
| ENST00000431330.6:c.181-5129C>T | ENSP00000393244.2:n.181-5129C>T | |
| ENST00000438307.6:c.181-3261C>T | ENSP00000411511.2:n.181-3261C>T | |
| ENST00000457527.6:c.256C>T | ENSP00000387893.2:p.Arg86Cys | |
| ENST00000502888.1:n.248C>T | ||
| ENST00000504156.5:c.256C>T | ENSP00000425634.1:p.Arg86Cys | |
| ENST00000504366.5:c.49C>T | ENSP00000430063.1:p.Arg17Cys | |
| ENST00000506579.5:n.218-3261C>T | ||
| ENST00000507746.5:c.256C>T | ENSP00000425889.1:p.Arg86Cys | |
| ENST00000512396.5:c.*195C>T | ENSP00000421576.1:n.*195C>T | |
| ENST00000518126.5:n.291C>T | ||
| NM_001258040.2:c.181-3261C>T | NP_001244969.1:n.181-3261C>T | |
| NM_001258041.2:c.256C>T | NP_001244970.1:p.Arg86Cys | |
| NM_001258042.2:c.181-3261C>T | NP_001244971.1:n.181-3261C>T | |
| NM_001289092.1:c.256C>T | NP_001276021.1:p.Arg86Cys | |
| NM_001289093.1:c.181-5129C>T | NP_001276022.1:n.181-5129C>T | |
| NM_001289094.1:c.169C>T | NP_001276023.1:p.Arg57Cys | |
| NM_002109.5:c.256C>T | NP_002100.2:p.Arg86Cys | |
| NM_002109.6:c.256C>T MANE Select | NP_002100.2:p.Arg86Cys | |
| NM_001258040.3:c.181-3261C>T | NP_001244969.1:n.181-3261C>T | |
| NM_001258041.3:c.256C>T | NP_001244970.1:p.Arg86Cys | |
| NM_001258042.3:c.181-3261C>T | NP_001244971.1:n.181-3261C>T | |
| NM_001289092.2:c.256C>T | NP_001276021.1:p.Arg86Cys | |
| NM_001289093.2:c.181-5129C>T | NP_001276022.1:n.181-5129C>T | |
| NM_001289094.2:c.169C>T | NP_001276023.1:p.Arg57Cys |