Linked Data
ClinVar Variation Id:
16571
ClinVar RCV Id:
RCV000018039
dbSNP Id:
rs121434573
gnomAD v3:
13-102856110-C-T
gnomAD v4:
13-102856110-C-T
PubMed:
PMID:11228268
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.102856110C>T , CM000675.2:g.102856110C>T | GRCh38 |
| NC_000013.10:g.103508460C>T , CM000675.1:g.103508460C>T | GRCh37 |
| NC_000013.9:g.102306461C>T | NCBI36 |
| NG_007146.1:g.15287C>T , LRG_464:g.15287C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682632.1:n.767C>T (ERCC5) | ||
| ENST00000682869.1:n.1175C>T (ERCC5) | ||
| ENST00000683246.1:n.1303C>T (ERCC5) | ||
| ENST00000684184.1:n.1172C>T (ERCC5) | ||
| ENST00000639132.1:c.1201C>T (BIVM-ERCC5) | ENSP00000492684.1:p.Gln401Ter | |
| ENST00000639435.1:c.1888C>T (BIVM-ERCC5) | ENSP00000491742.1:p.Gln630Ter | |
| ENST00000651002.1:c.*287C>T (ERCC5) | ENSP00000498809.1:n.*287C>T | |
| ENST00000651055.1:n.655C>T (ERCC5) | ||
| ENST00000651281.1:n.894C>T (ERCC5) | ||
| ENST00000651470.1:c.526C>T (ERCC5) | ENSP00000498701.1:p.Gln176Ter | |
| ENST00000652225.2:c.526C>T (ERCC5) MANE Select | ENSP00000498881.2:p.Gln176Ter | |
| ENST00000652613.1:c.22C>T (ERCC5) | ENSP00000498357.1:p.Gln8Ter | |
| ENST00000355739.8:c.526C>T (ERCC5) | ENSP00000347978.4:p.Gln176Ter | |
| ENST00000535557.5:c.526C>T (ERCC5) | ENSP00000442117.1:p.Gln176Ter | |
| ENST00000602836.1:c.1802C>T (BIVM-ERCC5) | ||
| ENST00000610537.4:c.526C>T (ERCC5) | ENSP00000478667.1:p.Gln176Ter | |
| NM_000123.3:c.526C>T , LRG_464t1:c.526C>T (ERCC5) | NP_000114.2:p.Gln176Ter | |
| NM_001204425.1:c.1888C>T (BIVM-ERCC5) | NP_001191354.1:p.Gln630Ter | |
| NM_000123.4:c.526C>T (ERCC5) MANE Select | NP_000114.3:p.Gln176Ter | |
| NM_001204425.2:c.1888C>T (BIVM-ERCC5) | NP_001191354.2:p.Gln630Ter |