Linked Data
ClinVar Variation Id:
16566
dbSNP Id:
rs121434570
ExAC:
13:103524747 G / T
gnomAD v2:
13-103524747-G-T
gnomAD v3:
13-102872397-G-T
gnomAD v4:
13-102872397-G-T
PubMed:
PMID:7951246
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.102872397G>T , CM000675.2:g.102872397G>T | GRCh38 |
| NC_000013.10:g.103524747G>T , CM000675.1:g.103524747G>T | GRCh37 |
| NC_000013.9:g.102322748G>T | NCBI36 |
| NG_007146.1:g.31574G>T , LRG_464:g.31574G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682632.1:n.3119G>T (ERCC5) | ||
| ENST00000682869.1:n.3527G>T (ERCC5) | ||
| ENST00000683246.1:n.3655G>T (ERCC5) | ||
| ENST00000683642.1:n.2248G>T (ERCC5) | ||
| ENST00000639132.1:c.3553G>T (BIVM-ERCC5) | ENSP00000492684.1:p.Glu1185Ter | |
| ENST00000639435.1:c.4240G>T (BIVM-ERCC5) | ENSP00000491742.1:p.Glu1414Ter | |
| ENST00000651002.1:c.*2639G>T (ERCC5) | ENSP00000498809.1:n.*2639G>T | |
| ENST00000651055.1:n.3007G>T (ERCC5) | ||
| ENST00000651281.1:n.3246G>T (ERCC5) | ||
| ENST00000651387.1:n.2362G>T (ERCC5) | ||
| ENST00000651470.1:c.*50G>T (ERCC5) | ENSP00000498701.1:n.*50G>T | |
| ENST00000652225.2:c.2878G>T (ERCC5) MANE Select | ENSP00000498881.2:p.Glu960Ter | |
| ENST00000652613.1:c.2374G>T (ERCC5) | ENSP00000498357.1:p.Glu792Ter | |
| ENST00000355739.8:c.2878G>T (ERCC5) | ENSP00000347978.4:p.Glu960Ter | |
| ENST00000375954.1:c.577G>T (ERCC5) | ENSP00000365121.1:p.Glu193Ter | |
| ENST00000602836.1:c.4154G>T (BIVM-ERCC5) | ||
| ENST00000610537.4:c.2875G>T (ERCC5) | ENSP00000478667.1:p.Glu959Ter | |
| NM_000123.3:c.2878G>T , LRG_464t1:c.2878G>T (ERCC5) | NP_000114.2:p.Glu960Ter | |
| NM_001204425.1:c.4240G>T (BIVM-ERCC5) | NP_001191354.1:p.Glu1414Ter | |
| NM_000123.4:c.2878G>T (ERCC5) MANE Select | NP_000114.3:p.Glu960Ter | |
| NM_001204425.2:c.4240G>T (BIVM-ERCC5) | NP_001191354.2:p.Glu1414Ter |