Linked Data
ClinVar Variation Id:
134173
dbSNP Id:
rs9514067
ExAC:
13:103527930 G / C
gnomAD v2:
13-103527930-G-C
gnomAD v3:
13-102875580-G-C
gnomAD v4:
13-102875580-G-C
PubMed:
PMID:24728327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.102875580G>C , CM000675.2:g.102875580G>C | GRCh38 |
| NC_000013.10:g.103527930G>C , CM000675.1:g.103527930G>C | GRCh37 |
| NC_000013.9:g.102325931G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682632.1:n.4339G>C (ERCC5) | ||
| ENST00000682869.1:n.3887G>C (ERCC5) | ||
| ENST00000683246.1:n.4875G>C (ERCC5) | ||
| ENST00000683642.1:n.3468G>C (ERCC5) | ||
| ENST00000639132.1:c.3913G>C (BIVM-ERCC5) | ENSP00000492684.1:p.Gly1305Arg | |
| ENST00000639435.1:c.4600G>C (BIVM-ERCC5) | ENSP00000491742.1:p.Gly1534Arg | |
| ENST00000651002.1:c.*2999G>C (ERCC5) | ENSP00000498809.1:n.*2999G>C | |
| ENST00000651055.1:n.3365G>C (ERCC5) | ||
| ENST00000651281.1:n.3606G>C (ERCC5) | ||
| ENST00000651387.1:n.2722G>C (ERCC5) | ||
| ENST00000651470.1:c.*410G>C (ERCC5) | ENSP00000498701.1:n.*410G>C | |
| ENST00000652225.2:c.3238G>C (ERCC5) MANE Select | ENSP00000498881.2:p.Gly1080Arg | |
| ENST00000652613.1:c.2734G>C (ERCC5) | ENSP00000498357.1:p.Gly912Arg | |
| ENST00000355739.8:c.3238G>C (ERCC5) | ENSP00000347978.4:p.Gly1080Arg | |
| ENST00000375954.1:c.937G>C (ERCC5) | ENSP00000365121.1:p.Gly313Arg | |
| ENST00000472247.1:n.398G>C (ERCC5) | ||
| ENST00000610537.4:c.3235G>C (ERCC5) | ENSP00000478667.1:p.Gly1079Arg | |
| NM_000123.4:c.3238G>C (ERCC5) MANE Select | NP_000114.3:p.Gly1080Arg | |
| NM_001204425.2:c.4600G>C (BIVM-ERCC5) | NP_001191354.2:p.Gly1534Arg |