Linked Data
ClinVar Variation Id:
134165
dbSNP Id:
rs574826021
ExAC:
13:103525619 C / T
gnomAD v2:
13-103525619-C-T
gnomAD v3:
13-102873269-C-T
gnomAD v4:
13-102873269-C-T
PubMed:
PMID:24728327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.102873269C>T , CM000675.2:g.102873269C>T | GRCh38 |
| NC_000013.10:g.103525619C>T , CM000675.1:g.103525619C>T | GRCh37 |
| NC_000013.9:g.102323620C>T | NCBI36 |
| NG_007146.1:g.32446C>T , LRG_464:g.32446C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682632.1:n.3991C>T (ERCC5) | ||
| ENST00000682869.1:n.3539C>T (ERCC5) | ||
| ENST00000683246.1:n.4527C>T (ERCC5) | ||
| ENST00000683642.1:n.3120C>T (ERCC5) | ||
| ENST00000639132.1:c.3565C>T (BIVM-ERCC5) | ENSP00000492684.1:p.Arg1189Trp | |
| ENST00000639435.1:c.4252C>T (BIVM-ERCC5) | ENSP00000491742.1:p.Arg1418Trp | |
| ENST00000651002.1:c.*2651C>T (ERCC5) | ENSP00000498809.1:n.*2651C>T | |
| ENST00000651055.1:n.3017C>T (ERCC5) | ||
| ENST00000651281.1:n.3258C>T (ERCC5) | ||
| ENST00000651387.1:n.2374C>T (ERCC5) | ||
| ENST00000651470.1:c.*62C>T (ERCC5) | ENSP00000498701.1:n.*62C>T | |
| ENST00000652225.2:c.2890C>T (ERCC5) MANE Select | ENSP00000498881.2:p.Arg964Trp | |
| ENST00000652613.1:c.2386C>T (ERCC5) | ENSP00000498357.1:p.Arg796Trp | |
| ENST00000355739.8:c.2890C>T (ERCC5) | ENSP00000347978.4:p.Arg964Trp | |
| ENST00000375954.1:c.589C>T (ERCC5) | ENSP00000365121.1:p.Arg197Trp | |
| ENST00000610537.4:c.2887C>T (ERCC5) | ENSP00000478667.1:p.Arg963Trp | |
| NM_000123.3:c.2890C>T , LRG_464t1:c.2890C>T (ERCC5) | NP_000114.2:p.Arg964Trp | |
| NM_001204425.1:c.4252C>T (BIVM-ERCC5) | NP_001191354.1:p.Arg1418Trp | |
| NM_000123.4:c.2890C>T (ERCC5) MANE Select | NP_000114.3:p.Arg964Trp | |
| NM_001204425.2:c.4252C>T (BIVM-ERCC5) | NP_001191354.2:p.Arg1418Trp |