COSMIC:
COSM3736079 (not active)
Revel Score:
ENST00000418659
0.023
ENST00000355739
0.023
ENST00000375955
0.023
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.06492704 (MID)
Genomes Max Group AF
0.04323575 (NFE)
Exomes Max Group AF
0.06474198 (MID)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.102862735G>C , CM000675.2:g.102862735G>C | GRCh38 |
| NC_000013.10:g.103515085G>C , CM000675.1:g.103515085G>C | GRCh37 |
| NC_000013.9:g.102313086G>C | NCBI36 |
| NG_007146.1:g.21912G>C , LRG_464:g.21912G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682632.1:n.1827G>C (ERCC5) | ||
| ENST00000682869.1:n.2235G>C (ERCC5) | ||
| ENST00000683246.1:n.2363G>C (ERCC5) | ||
| ENST00000639132.1:c.2261G>C (BIVM-ERCC5) | ENSP00000492684.1:p.Cys754Ser | |
| ENST00000639435.1:c.2948G>C (BIVM-ERCC5) | ENSP00000491742.1:p.Cys983Ser | |
| ENST00000651002.1:c.*1347G>C (ERCC5) | ENSP00000498809.1:n.*1347G>C | |
| ENST00000651055.1:n.1715G>C (ERCC5) | ||
| ENST00000651281.1:n.1954G>C (ERCC5) | ||
| ENST00000651387.1:n.1070G>C (ERCC5) | ||
| ENST00000651470.1:c.1586G>C (ERCC5) | ENSP00000498701.1:p.Cys529Ser | |
| ENST00000652225.2:c.1586G>C (ERCC5) MANE Select | ENSP00000498881.2:p.Cys529Ser | |
| ENST00000652613.1:c.1082G>C (ERCC5) | ENSP00000498357.1:p.Cys361Ser | |
| ENST00000355739.8:c.1586G>C (ERCC5) | ENSP00000347978.4:p.Cys529Ser | |
| ENST00000602836.1:c.2862G>C (BIVM-ERCC5) | ||
| ENST00000610537.4:c.1586G>C (ERCC5) | ENSP00000478667.1:p.Cys529Ser | |
| NM_000123.3:c.1586G>C , LRG_464t1:c.1586G>C (ERCC5) | NP_000114.2:p.Cys529Ser | |
| NM_001204425.1:c.2948G>C (BIVM-ERCC5) | NP_001191354.1:p.Cys983Ser | |
| NM_000123.4:c.1586G>C (ERCC5) MANE Select | NP_000114.3:p.Cys529Ser | |
| NM_001204425.2:c.2948G>C (BIVM-ERCC5) | NP_001191354.2:p.Cys983Ser |