Linked Data
ClinVar Variation Id:
16578
ClinVar RCV Id:
RCV000018046
dbSNP Id:
rs121434577
PubMed:
PMID:12060391
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.102854313C>T , CM000675.2:g.102854313C>T | GRCh38 |
| NC_000013.10:g.103506663C>T , CM000675.1:g.103506663C>T | GRCh37 |
| NC_000013.9:g.102304664C>T | NCBI36 |
| NG_007146.1:g.13490C>T , LRG_464:g.13490C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682632.1:n.647C>T (ERCC5) | ||
| ENST00000682869.1:n.1055C>T (ERCC5) | ||
| ENST00000683246.1:n.1183C>T (ERCC5) | ||
| ENST00000684184.1:n.1052C>T (ERCC5) | ||
| ENST00000638434.1:c.504C>T (BIVM-ERCC5) | ||
| ENST00000639132.1:c.1081C>T (BIVM-ERCC5) | ENSP00000492684.1:p.Gln361Ter | |
| ENST00000639435.1:c.1768C>T (BIVM-ERCC5) | ENSP00000491742.1:p.Gln590Ter | |
| ENST00000651002.1:c.*167C>T (ERCC5) | ENSP00000498809.1:n.*167C>T | |
| ENST00000651055.1:n.535C>T (ERCC5) | ||
| ENST00000651281.1:n.774C>T (ERCC5) | ||
| ENST00000651470.1:c.406C>T (ERCC5) | ENSP00000498701.1:p.Gln136Ter | |
| ENST00000652225.2:c.406C>T (ERCC5) MANE Select | ENSP00000498881.2:p.Gln136Ter | |
| ENST00000652613.1:c.-99C>T (ERCC5) | ENSP00000498357.1:n.-99C>T | |
| ENST00000355739.8:c.406C>T (ERCC5) | ENSP00000347978.4:p.Gln136Ter | |
| ENST00000535557.5:c.406C>T (ERCC5) | ENSP00000442117.1:p.Gln136Ter | |
| ENST00000602836.1:c.1682C>T (BIVM-ERCC5) | ||
| ENST00000610537.4:c.406C>T (ERCC5) | ENSP00000478667.1:p.Gln136Ter | |
| NM_000123.3:c.406C>T , LRG_464t1:c.406C>T (ERCC5) | NP_000114.2:p.Gln136Ter | |
| NM_001204425.1:c.1768C>T (BIVM-ERCC5) | NP_001191354.1:p.Gln590Ter | |
| NM_000123.4:c.406C>T (ERCC5) MANE Select | NP_000114.3:p.Gln136Ter | |
| NM_001204425.2:c.1768C>T (BIVM-ERCC5) | NP_001191354.2:p.Gln590Ter |