Linked Data
ClinVar Variation Id:
134159
dbSNP Id:
rs34291397
ExAC:
13:103498672 C / T
gnomAD v2:
13-103498672-C-T
gnomAD v3:
13-102846322-C-T
gnomAD v4:
13-102846322-C-T
PubMed:
PMID:24728327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.102846322C>T , CM000675.2:g.102846322C>T | GRCh38 |
| NC_000013.10:g.103498672C>T , CM000675.1:g.103498672C>T | GRCh37 |
| NC_000013.9:g.102296673C>T | NCBI36 |
| NG_007146.1:g.5499C>T , LRG_464:g.5499C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682632.1:n.297C>T (ERCC5) | ||
| ENST00000682869.1:n.290C>T (ERCC5) | ||
| ENST00000683246.1:n.418C>T (ERCC5) | ||
| ENST00000684184.1:n.287C>T (ERCC5) | ||
| ENST00000638434.1:c.363-7435C>T (BIVM-ERCC5) | ||
| ENST00000639118.1:c.363-2796C>T (BIVM-ERCC5) | ||
| ENST00000639132.1:c.764-5796C>T (BIVM-ERCC5) | ENSP00000492684.1:n.764-5796C>T | |
| ENST00000639435.1:c.1451-5796C>T (BIVM-ERCC5) | ENSP00000491742.1:n.1451-5796C>T | |
| ENST00000651002.1:c.56C>T (ERCC5) | ENSP00000498809.1:p.Pro19Leu | |
| ENST00000651470.1:c.56C>T (ERCC5) | ENSP00000498701.1:p.Pro19Leu | |
| ENST00000652225.2:c.56C>T (ERCC5) MANE Select | ENSP00000498881.2:p.Pro19Leu | |
| ENST00000652613.1:c.-442C>T (ERCC5) | ENSP00000498357.1:n.-442C>T | |
| ENST00000355739.8:c.56C>T (ERCC5) | ENSP00000347978.4:p.Pro19Leu | |
| ENST00000375958.3:n.211C>T (ERCC5) | ||
| ENST00000472151.1:c.48+8C>T (ERCC5) | ENSP00000436083.1:n.48+8C>T | |
| ENST00000535557.5:c.56C>T (ERCC5) | ENSP00000442117.1:p.Pro19Leu | |
| ENST00000602836.1:c.1365-5796C>T (BIVM-ERCC5) | ||
| ENST00000610537.4:c.56C>T (ERCC5) | ENSP00000478667.1:p.Pro19Leu | |
| NM_000123.3:c.56C>T , LRG_464t1:c.56C>T (ERCC5) | NP_000114.2:p.Pro19Leu | |
| NM_001204425.1:c.1451-5796C>T (BIVM-ERCC5) | NP_001191354.1:n.1451-5796C>T | |
| NM_000123.4:c.56C>T (ERCC5) MANE Select | NP_000114.3:p.Pro19Leu | |
| NM_001204425.2:c.1451-5796C>T (BIVM-ERCC5) | NP_001191354.2:n.1451-5796C>T |