Linked Data
ClinVar Variation Id:
41495
ClinVar RCV Id:
RCV000034376
dbSNP Id:
rs267607281
PubMed:
PMID:23255472
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.102846349C>A , CM000675.2:g.102846349C>A | GRCh38 |
| NC_000013.10:g.103498699C>A , CM000675.1:g.103498699C>A | GRCh37 |
| NC_000013.9:g.102296700C>A | NCBI36 |
| NG_007146.1:g.5526C>A , LRG_464:g.5526C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682632.1:n.324C>A (ERCC5) | ||
| ENST00000682869.1:n.317C>A (ERCC5) | ||
| ENST00000683246.1:n.445C>A (ERCC5) | ||
| ENST00000684184.1:n.314C>A (ERCC5) | ||
| ENST00000638434.1:c.363-7408C>A (BIVM-ERCC5) | ||
| ENST00000639118.1:c.363-2769C>A (BIVM-ERCC5) | ||
| ENST00000639132.1:c.764-5769C>A (BIVM-ERCC5) | ENSP00000492684.1:n.764-5769C>A | |
| ENST00000639435.1:c.1451-5769C>A (BIVM-ERCC5) | ENSP00000491742.1:n.1451-5769C>A | |
| ENST00000651002.1:c.83C>A (ERCC5) | ENSP00000498809.1:p.Ala28Asp | |
| ENST00000651470.1:c.83C>A (ERCC5) | ENSP00000498701.1:p.Ala28Asp | |
| ENST00000652225.2:c.83C>A (ERCC5) MANE Select | ENSP00000498881.2:p.Ala28Asp | |
| ENST00000652613.1:c.-415C>A (ERCC5) | ENSP00000498357.1:n.-415C>A | |
| ENST00000355739.8:c.83C>A (ERCC5) | ENSP00000347978.4:p.Ala28Asp | |
| ENST00000375958.3:n.238C>A (ERCC5) | ||
| ENST00000472151.1:c.48+35C>A (ERCC5) | ENSP00000436083.1:n.48+35C>A | |
| ENST00000535557.5:c.83C>A (ERCC5) | ENSP00000442117.1:p.Ala28Asp | |
| ENST00000602836.1:c.1365-5769C>A (BIVM-ERCC5) | ||
| ENST00000610537.4:c.83C>A (ERCC5) | ENSP00000478667.1:p.Ala28Asp | |
| NM_000123.3:c.83C>A , LRG_464t1:c.83C>A (ERCC5) | NP_000114.2:p.Ala28Asp | |
| NM_001204425.1:c.1451-5769C>A (BIVM-ERCC5) | NP_001191354.1:n.1451-5769C>A | |
| NM_000123.4:c.83C>A (ERCC5) MANE Select | NP_000114.3:p.Ala28Asp | |
| NM_001204425.2:c.1451-5769C>A (BIVM-ERCC5) | NP_001191354.2:n.1451-5769C>A |