Linked Data
ClinVar Variation Id:
134192
dbSNP Id:
rs2227870
ExAC:
13:103515379 C / A
gnomAD v2:
13-103515379-C-A
gnomAD v3:
13-102863029-C-A
gnomAD v4:
13-102863029-C-A
PubMed:
PMID:24728327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.102863029C>A , CM000675.2:g.102863029C>A | GRCh38 |
| NC_000013.10:g.103515379C>A , CM000675.1:g.103515379C>A | GRCh37 |
| NC_000013.9:g.102313380C>A | NCBI36 |
| NG_007146.1:g.22206C>A , LRG_464:g.22206C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682632.1:n.2121C>A (ERCC5) | ||
| ENST00000682869.1:n.2529C>A (ERCC5) | ||
| ENST00000683246.1:n.2657C>A (ERCC5) | ||
| ENST00000639132.1:c.2555C>A (BIVM-ERCC5) | ENSP00000492684.1:p.Ala852Glu | |
| ENST00000639435.1:c.3242C>A (BIVM-ERCC5) | ENSP00000491742.1:p.Ala1081Glu | |
| ENST00000651002.1:c.*1641C>A (ERCC5) | ENSP00000498809.1:n.*1641C>A | |
| ENST00000651055.1:n.2009C>A (ERCC5) | ||
| ENST00000651281.1:n.2248C>A (ERCC5) | ||
| ENST00000651387.1:n.1364C>A (ERCC5) | ||
| ENST00000651470.1:c.1880C>A (ERCC5) | ENSP00000498701.1:p.Ala627Glu | |
| ENST00000652225.2:c.1880C>A (ERCC5) MANE Select | ENSP00000498881.2:p.Ala627Glu | |
| ENST00000652613.1:c.1376C>A (ERCC5) | ENSP00000498357.1:p.Ala459Glu | |
| ENST00000355739.8:c.1880C>A (ERCC5) | ENSP00000347978.4:p.Ala627Glu | |
| ENST00000602836.1:c.3156C>A (BIVM-ERCC5) | ||
| ENST00000610537.4:c.1880C>A (ERCC5) | ENSP00000478667.1:p.Ala627Glu | |
| NM_000123.3:c.1880C>A , LRG_464t1:c.1880C>A (ERCC5) | NP_000114.2:p.Ala627Glu | |
| NM_001204425.1:c.3242C>A (BIVM-ERCC5) | NP_001191354.1:p.Ala1081Glu | |
| NM_000123.4:c.1880C>A (ERCC5) MANE Select | NP_000114.3:p.Ala627Glu | |
| NM_001204425.2:c.3242C>A (BIVM-ERCC5) | NP_001191354.2:p.Ala1081Glu |