Linked Data
ClinVar Variation Id:
310911
dbSNP Id:
rs750156480
ExAC:
13:103504506 C / T
gnomAD v2:
13-103504506-C-T
gnomAD v3:
13-102852156-C-T
gnomAD v4:
13-102852156-C-T
COSMIC:
COSM4877336
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.102852156C>T , CM000675.2:g.102852156C>T | GRCh38 |
| NC_000013.10:g.103504506C>T , CM000675.1:g.103504506C>T | GRCh37 |
| NC_000013.9:g.102302507C>T | NCBI36 |
| NG_007146.1:g.11333C>T , LRG_464:g.11333C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682632.1:n.368C>T (ERCC5) | ||
| ENST00000682869.1:n.361C>T (ERCC5) | ||
| ENST00000683246.1:n.489C>T (ERCC5) | ||
| ENST00000684184.1:n.358C>T (ERCC5) | ||
| ENST00000638434.1:c.363-1601C>T (BIVM-ERCC5) | ||
| ENST00000639118.1:c.478C>T (BIVM-ERCC5) | ||
| ENST00000639132.1:c.802C>T (BIVM-ERCC5) | ENSP00000492684.1:p.Arg268Trp | |
| ENST00000639435.1:c.1489C>T (BIVM-ERCC5) | ENSP00000491742.1:p.Arg497Trp | |
| ENST00000651002.1:c.127C>T (ERCC5) | ENSP00000498809.1:p.Arg43Trp | |
| ENST00000651055.1:n.256C>T (ERCC5) | ||
| ENST00000651281.1:n.495C>T (ERCC5) | ||
| ENST00000651470.1:c.127C>T (ERCC5) | ENSP00000498701.1:p.Arg43Trp | |
| ENST00000652225.2:c.127C>T (ERCC5) MANE Select | ENSP00000498881.2:p.Arg43Trp | |
| ENST00000652613.1:c.-378C>T (ERCC5) | ENSP00000498357.1:n.-378C>T | |
| ENST00000355739.8:c.127C>T (ERCC5) | ENSP00000347978.4:p.Arg43Trp | |
| ENST00000375958.3:n.282C>T (ERCC5) | ||
| ENST00000472151.1:c.*32C>T (ERCC5) | ENSP00000436083.1:n.*32C>T | |
| ENST00000535557.5:c.127C>T (ERCC5) | ENSP00000442117.1:p.Arg43Trp | |
| ENST00000602836.1:c.1403C>T (BIVM-ERCC5) | ||
| ENST00000610537.4:c.127C>T (ERCC5) | ENSP00000478667.1:p.Arg43Trp | |
| NM_000123.3:c.127C>T , LRG_464t1:c.127C>T (ERCC5) | NP_000114.2:p.Arg43Trp | |
| NM_001204425.1:c.1489C>T (BIVM-ERCC5) | NP_001191354.1:p.Arg497Trp | |
| NM_000123.4:c.127C>T (ERCC5) MANE Select | NP_000114.3:p.Arg43Trp | |
| NM_001204425.2:c.1489C>T (BIVM-ERCC5) | NP_001191354.2:p.Arg497Trp |