Linked Data
ClinVar Variation Id:
134193
dbSNP Id:
rs143667470
ExAC:
13:103514758 G / A
gnomAD v2:
13-103514758-G-A
gnomAD v3:
13-102862408-G-A
gnomAD v4:
13-102862408-G-A
COSMIC:
COSM1365334
PubMed:
PMID:24728327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.102862408G>A , CM000675.2:g.102862408G>A | GRCh38 |
| NC_000013.10:g.103514758G>A , CM000675.1:g.103514758G>A | GRCh37 |
| NC_000013.9:g.102312759G>A | NCBI36 |
| NG_007146.1:g.21585G>A , LRG_464:g.21585G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682632.1:n.1500G>A (ERCC5) | ||
| ENST00000682869.1:n.1908G>A (ERCC5) | ||
| ENST00000683246.1:n.2036G>A (ERCC5) | ||
| ENST00000639132.1:c.1934G>A (BIVM-ERCC5) | ENSP00000492684.1:p.Arg645His | |
| ENST00000639435.1:c.2621G>A (BIVM-ERCC5) | ENSP00000491742.1:p.Arg874His | |
| ENST00000651002.1:c.*1020G>A (ERCC5) | ENSP00000498809.1:n.*1020G>A | |
| ENST00000651055.1:n.1388G>A (ERCC5) | ||
| ENST00000651281.1:n.1627G>A (ERCC5) | ||
| ENST00000651387.1:n.743G>A (ERCC5) | ||
| ENST00000651470.1:c.1259G>A (ERCC5) | ENSP00000498701.1:p.Arg420His | |
| ENST00000652225.2:c.1259G>A (ERCC5) MANE Select | ENSP00000498881.2:p.Arg420His | |
| ENST00000652613.1:c.755G>A (ERCC5) | ENSP00000498357.1:p.Arg252His | |
| ENST00000355739.8:c.1259G>A (ERCC5) | ENSP00000347978.4:p.Arg420His | |
| ENST00000602836.1:c.2535G>A (BIVM-ERCC5) | ||
| ENST00000610537.4:c.1259G>A (ERCC5) | ENSP00000478667.1:p.Arg420His | |
| NM_000123.3:c.1259G>A , LRG_464t1:c.1259G>A (ERCC5) | NP_000114.2:p.Arg420His | |
| NM_001204425.1:c.2621G>A (BIVM-ERCC5) | NP_001191354.1:p.Arg874His | |
| NM_000123.4:c.1259G>A (ERCC5) MANE Select | NP_000114.3:p.Arg420His | |
| NM_001204425.2:c.2621G>A (BIVM-ERCC5) | NP_001191354.2:p.Arg874His |