Revel Score:
ENST00000348295
0.903
ENST00000382578
0.903
ENST00000382563
0.903
ENST00000544772
0.903
ENST00000328354
0.903
ENST00000404276 (MANE Select)
0.903
ENST00000405598
0.903
ENST00000382580
0.903
ENST00000403642
0.903
ENST00000402731
0.903
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001568 (NFE)
Exomes Max Group AF
0.00001627 (NFE)
ClinVar Allele:
ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.28694073G>A , CM000684.2:g.28694073G>A | GRCh38 |
| NC_000022.10:g.29090061G>A , CM000684.1:g.29090061G>A | GRCh37 |
| NC_000022.9:g.27420061G>A | NCBI36 |
| NG_008150.1:g.52762C>T | |
| NG_008150.2:g.52794C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000711048.1:c.*155C>T | ENSP00000518557.1:n.*155C>T | |
| ENST00000402731.6:c.1219C>T | ENSP00000384835.2:p.Arg407Cys | |
| ENST00000404276.6:c.1420C>T MANE Select | ENSP00000385747.1:p.Arg474Cys | |
| ENST00000425190.7:c.757C>T | ENSP00000390244.2:p.Arg253Cys | |
| ENST00000464581.6:c.760C>T | ENSP00000483777.2:p.Arg254Cys | |
| ENST00000648295.1:n.972C>T | ||
| ENST00000649563.1:c.757C>T | ENSP00000496928.1:p.Arg253Cys | |
| ENST00000650281.1:c.1420C>T | ENSP00000497000.1:p.Arg474Cys | |
| ENST00000328354.10:c.1420C>T | ENSP00000329178.6:p.Arg474Cys | |
| ENST00000348295.7:c.1333C>T | ENSP00000329012.5:p.Arg445Cys | |
| ENST00000382580.6:c.1549C>T | ENSP00000372023.2:p.Arg517Cys | |
| ENST00000402731.5:c.1333C>T | ENSP00000384835.1:p.Arg445Cys | |
| ENST00000403642.5:c.1147C>T | ENSP00000384919.1:p.Arg383Cys | |
| ENST00000404276.5:c.1420C>T | ENSP00000385747.1:p.Arg474Cys | |
| ENST00000405598.5:c.1420C>T | ENSP00000386087.1:p.Arg474Cys | |
| ENST00000416671.5:c.*910C>T | ENSP00000402225.1:n.*910C>T | |
| ENST00000417588.5:c.1329C>T | ENSP00000412901.1:n.1329C>T | |
| ENST00000433728.5:c.1358C>T | ENSP00000404400.1:n.1358C>T | |
| ENST00000434810.5:c.618C>T | ||
| ENST00000448511.5:c.1310C>T | ENSP00000404567.1:n.1310C>T | |
| ENST00000456369.5:c.264-4858C>T | ||
| NM_001005735.1:c.1549C>T | NP_001005735.1:p.Arg517Cys | |
| NM_001257387.1:c.757C>T | NP_001244316.1:p.Arg253Cys | |
| NM_007194.3:c.1420C>T | NP_009125.1:p.Arg474Cys | |
| NM_145862.2:c.1333C>T | NP_665861.1:p.Arg445Cys | |
| XM_006724114.2:c.940C>T | XP_006724177.1:p.Arg314Cys | |
| XM_006724116.2:c.877C>T | XP_006724179.2:p.Arg293Cys | |
| XM_011529839.1:c.1579C>T | XP_011528141.1:p.Arg527Cys | |
| XM_011529840.1:c.1492C>T | XP_011528142.1:p.Arg498Cys | |
| XM_011529841.1:c.1348C>T | XP_011528143.1:p.Arg450Cys | |
| XM_011529842.1:c.1249C>T | XP_011528144.1:p.Arg417Cys | |
| XM_011529843.1:c.1219C>T | XP_011528145.1:p.Arg407Cys | |
| XM_011529845.1:c.757C>T | XP_011528147.1:p.Arg253Cys | |
| XR_937805.1:n.1579C>T | ||
| NM_001349956.1:c.1219C>T | NP_001336885.1:p.Arg407Cys | |
| NM_007194.4:c.1420C>T MANE Select | NP_009125.1:p.Arg474Cys | |
| XM_006724114.3:c.973C>T | XP_006724177.2:p.Arg325Cys | |
| XM_011529839.2:c.1579C>T | XP_011528141.1:p.Arg527Cys | |
| XM_011529840.3:c.1492C>T | XP_011528142.1:p.Arg498Cys | |
| XM_011529842.2:c.1249C>T | XP_011528144.1:p.Arg417Cys | |
| XM_011529845.2:c.757C>T | XP_011528147.1:p.Arg253Cys | |
| XM_017028560.1:c.1543C>T | XP_016884049.1:p.Arg515Cys | |
| XM_017028561.2:c.757C>T | XP_016884050.1:p.Arg253Cys | |
| XM_024452148.1:c.1450C>T | XP_024307916.1:p.Arg484Cys | |
| XM_024452149.1:c.1363C>T | XP_024307917.1:p.Arg455Cys | |
| XR_937805.2:n.1590C>T | ||
| NM_001005735.2:c.1549C>T | NP_001005735.1:p.Arg517Cys | |
| NM_001257387.2:c.757C>T | NP_001244316.1:p.Arg253Cys | |
| NM_001349956.2:c.1219C>T | NP_001336885.1:p.Arg407Cys |