Linked Data
ClinVar Variation Id:
134167
dbSNP Id:
rs587778292
ExAC:
13:103527730 A / G
gnomAD v2:
13-103527730-A-G
gnomAD v3:
13-102875380-A-G
gnomAD v4:
13-102875380-A-G
PubMed:
PMID:24728327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.102875380A>G , CM000675.2:g.102875380A>G | GRCh38 |
| NC_000013.10:g.103527730A>G , CM000675.1:g.103527730A>G | GRCh37 |
| NC_000013.9:g.102325731A>G | NCBI36 |
| NG_007146.1:g.34557A>G , LRG_464:g.34557A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682632.1:n.4139A>G (ERCC5) | ||
| ENST00000682869.1:n.3687A>G (ERCC5) | ||
| ENST00000683246.1:n.4675A>G (ERCC5) | ||
| ENST00000683642.1:n.3268A>G (ERCC5) | ||
| ENST00000639132.1:c.3713A>G (BIVM-ERCC5) | ENSP00000492684.1:p.Gln1238Arg | |
| ENST00000639435.1:c.4400A>G (BIVM-ERCC5) | ENSP00000491742.1:p.Gln1467Arg | |
| ENST00000651002.1:c.*2799A>G (ERCC5) | ENSP00000498809.1:n.*2799A>G | |
| ENST00000651055.1:n.3165A>G (ERCC5) | ||
| ENST00000651281.1:n.3406A>G (ERCC5) | ||
| ENST00000651387.1:n.2522A>G (ERCC5) | ||
| ENST00000651470.1:c.*210A>G (ERCC5) | ENSP00000498701.1:n.*210A>G | |
| ENST00000652225.2:c.3038A>G (ERCC5) MANE Select | ENSP00000498881.2:p.Gln1013Arg | |
| ENST00000652613.1:c.2534A>G (ERCC5) | ENSP00000498357.1:p.Gln845Arg | |
| ENST00000355739.8:c.3038A>G (ERCC5) | ENSP00000347978.4:p.Gln1013Arg | |
| ENST00000375954.1:c.737A>G (ERCC5) | ENSP00000365121.1:p.Gln246Arg | |
| ENST00000472247.1:n.198A>G (ERCC5) | ||
| ENST00000610537.4:c.3035A>G (ERCC5) | ENSP00000478667.1:p.Gln1012Arg | |
| NM_000123.3:c.3038A>G , LRG_464t1:c.3038A>G (ERCC5) | NP_000114.2:p.Gln1013Arg | |
| NM_001204425.1:c.4400A>G (BIVM-ERCC5) | NP_001191354.1:p.Gln1467Arg | |
| NM_000123.4:c.3038A>G (ERCC5) MANE Select | NP_000114.3:p.Gln1013Arg | |
| NM_001204425.2:c.4400A>G (BIVM-ERCC5) | NP_001191354.2:p.Gln1467Arg |