Revel Score:
ENST00000418659
0.857
ENST00000355739
0.857
ENST00000375955
0.857
ENST00000375954
0.857
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00010969 (SAS)
Genomes Max Group AF
0.00001972 (NFE)
Exomes Max Group AF
0.00011549 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.102868199G>A , CM000675.2:g.102868199G>A | GRCh38 |
| NC_000013.10:g.103520549G>A , CM000675.1:g.103520549G>A | GRCh37 |
| NC_000013.9:g.102318550G>A | NCBI36 |
| NG_007146.1:g.27376G>A , LRG_464:g.27376G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682632.1:n.2861G>A (ERCC5) | ||
| ENST00000682869.1:n.3269G>A (ERCC5) | ||
| ENST00000683246.1:n.3397G>A (ERCC5) | ||
| ENST00000639132.1:c.3295G>A (BIVM-ERCC5) | ENSP00000492684.1:p.Ala1099Thr | |
| ENST00000639435.1:c.3982G>A (BIVM-ERCC5) | ENSP00000491742.1:p.Ala1328Thr | |
| ENST00000651002.1:c.*2381G>A (ERCC5) | ENSP00000498809.1:n.*2381G>A | |
| ENST00000651055.1:n.2749G>A (ERCC5) | ||
| ENST00000651281.1:n.2988G>A (ERCC5) | ||
| ENST00000651387.1:n.2104G>A (ERCC5) | ||
| ENST00000651470.1:c.2620G>A (ERCC5) | ENSP00000498701.1:p.Ala874Thr | |
| ENST00000652225.2:c.2620G>A (ERCC5) MANE Select | ENSP00000498881.2:p.Ala874Thr | |
| ENST00000652613.1:c.2116G>A (ERCC5) | ENSP00000498357.1:p.Ala706Thr | |
| ENST00000355739.8:c.2620G>A (ERCC5) | ENSP00000347978.4:p.Ala874Thr | |
| ENST00000375954.1:c.319G>A (ERCC5) | ENSP00000365121.1:p.Ala107Thr | |
| ENST00000481099.1:n.740G>A (ERCC5) | ||
| ENST00000602836.1:c.3896G>A (BIVM-ERCC5) | ||
| ENST00000610537.4:c.2617G>A (ERCC5) | ENSP00000478667.1:p.Ala873Thr | |
| NM_000123.3:c.2620G>A , LRG_464t1:c.2620G>A (ERCC5) | NP_000114.2:p.Ala874Thr | |
| NM_001204425.1:c.3982G>A (BIVM-ERCC5) | NP_001191354.1:p.Ala1328Thr | |
| NM_000123.4:c.2620G>A (ERCC5) MANE Select | NP_000114.3:p.Ala874Thr | |
| NM_001204425.2:c.3982G>A (BIVM-ERCC5) | NP_001191354.2:p.Ala1328Thr |