Linked Data
ClinVar Variation Id:
41496
ClinVar RCV Id:
RCV000034377
dbSNP Id:
rs267607280
PubMed:
PMID:23255472
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.102873283G>C , CM000675.2:g.102873283G>C | GRCh38 |
| NC_000013.10:g.103525633G>C , CM000675.1:g.103525633G>C | GRCh37 |
| NC_000013.9:g.102323634G>C | NCBI36 |
| NG_007146.1:g.32460G>C , LRG_464:g.32460G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682632.1:n.4005G>C (ERCC5) | ||
| ENST00000682869.1:n.3553G>C (ERCC5) | ||
| ENST00000683246.1:n.4541G>C (ERCC5) | ||
| ENST00000683642.1:n.3134G>C (ERCC5) | ||
| ENST00000639132.1:c.3579G>C (BIVM-ERCC5) | ENSP00000492684.1:p.Trp1193Cys | |
| ENST00000639435.1:c.4266G>C (BIVM-ERCC5) | ENSP00000491742.1:p.Trp1422Cys | |
| ENST00000651002.1:c.*2665G>C (ERCC5) | ENSP00000498809.1:n.*2665G>C | |
| ENST00000651055.1:n.3031G>C (ERCC5) | ||
| ENST00000651281.1:n.3272G>C (ERCC5) | ||
| ENST00000651387.1:n.2388G>C (ERCC5) | ||
| ENST00000651470.1:c.*76G>C (ERCC5) | ENSP00000498701.1:n.*76G>C | |
| ENST00000652225.2:c.2904G>C (ERCC5) MANE Select | ENSP00000498881.2:p.Trp968Cys | |
| ENST00000652613.1:c.2400G>C (ERCC5) | ENSP00000498357.1:p.Trp800Cys | |
| ENST00000355739.8:c.2904G>C (ERCC5) | ENSP00000347978.4:p.Trp968Cys | |
| ENST00000375954.1:c.603G>C (ERCC5) | ENSP00000365121.1:p.Trp201Cys | |
| ENST00000610537.4:c.2901G>C (ERCC5) | ENSP00000478667.1:p.Trp967Cys | |
| NM_000123.3:c.2904G>C , LRG_464t1:c.2904G>C (ERCC5) | NP_000114.2:p.Trp968Cys | |
| NM_001204425.1:c.4266G>C (BIVM-ERCC5) | NP_001191354.1:p.Trp1422Cys | |
| NM_000123.4:c.2904G>C (ERCC5) MANE Select | NP_000114.3:p.Trp968Cys | |
| NM_001204425.2:c.4266G>C (BIVM-ERCC5) | NP_001191354.2:p.Trp1422Cys |