COSMIC:
COSN15655158 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.47854873 (NFE)
Genomes Max Group AF
0.47750996 (NFE)
Exomes Max Group AF
0.47792669 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.102846025T>C , CM000675.2:g.102846025T>C | GRCh38 |
| NC_000013.10:g.103498375T>C , CM000675.1:g.103498375T>C | GRCh37 |
| NC_000013.9:g.102296376T>C | NCBI36 |
| NG_007146.1:g.5202T>C , LRG_464:g.5202T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683246.1:n.121T>C (ERCC5) | ||
| ENST00000638434.1:c.363-7732T>C (BIVM-ERCC5) | ||
| ENST00000639118.1:c.363-3093T>C (BIVM-ERCC5) | ||
| ENST00000639132.1:c.764-6093T>C (BIVM-ERCC5) | ENSP00000492684.1:n.764-6093T>C | |
| ENST00000639435.1:c.1451-6093T>C (BIVM-ERCC5) | ENSP00000491742.1:n.1451-6093T>C | |
| ENST00000651002.1:c.-242T>C (ERCC5) | ENSP00000498809.1:n.-242T>C | |
| ENST00000652613.1:c.-739T>C (ERCC5) | ENSP00000498357.1:n.-739T>C | |
| ENST00000355739.8:c.-242T>C (ERCC5) | ENSP00000347978.4:n.-242T>C | |
| ENST00000535557.5:c.-242T>C (ERCC5) | ENSP00000442117.1:n.-242T>C | |
| ENST00000602836.1:c.1365-6093T>C (BIVM-ERCC5) | ||
| NM_000123.3:c.-242T>C , LRG_464t1:c.-242T>C (ERCC5) | NP_000114.2:n.-242T>C | |
| NM_001204425.1:c.1451-6093T>C (BIVM-ERCC5) | NP_001191354.1:n.1451-6093T>C | |
| NM_001204425.2:c.1451-6093T>C (BIVM-ERCC5) | NP_001191354.2:n.1451-6093T>C |