Linked Data
ClinVar Variation Id:
134195
dbSNP Id:
rs4150319
ExAC:
13:103515288 G / C
gnomAD v2:
13-103515288-G-C
gnomAD v3:
13-102862938-G-C
gnomAD v4:
13-102862938-G-C
PubMed:
PMID:24728327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.102862938G>C , CM000675.2:g.102862938G>C | GRCh38 |
| NC_000013.10:g.103515288G>C , CM000675.1:g.103515288G>C | GRCh37 |
| NC_000013.9:g.102313289G>C | NCBI36 |
| NG_007146.1:g.22115G>C , LRG_464:g.22115G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682632.1:n.2030G>C (ERCC5) | ||
| ENST00000682869.1:n.2438G>C (ERCC5) | ||
| ENST00000683246.1:n.2566G>C (ERCC5) | ||
| ENST00000639132.1:c.2464G>C (BIVM-ERCC5) | ENSP00000492684.1:p.Val822Leu | |
| ENST00000639435.1:c.3151G>C (BIVM-ERCC5) | ENSP00000491742.1:p.Val1051Leu | |
| ENST00000651002.1:c.*1550G>C (ERCC5) | ENSP00000498809.1:n.*1550G>C | |
| ENST00000651055.1:n.1918G>C (ERCC5) | ||
| ENST00000651281.1:n.2157G>C (ERCC5) | ||
| ENST00000651387.1:n.1273G>C (ERCC5) | ||
| ENST00000651470.1:c.1789G>C (ERCC5) | ENSP00000498701.1:p.Val597Leu | |
| ENST00000652225.2:c.1789G>C (ERCC5) MANE Select | ENSP00000498881.2:p.Val597Leu | |
| ENST00000652613.1:c.1285G>C (ERCC5) | ENSP00000498357.1:p.Val429Leu | |
| ENST00000355739.8:c.1789G>C (ERCC5) | ENSP00000347978.4:p.Val597Leu | |
| ENST00000602836.1:c.3065G>C (BIVM-ERCC5) | ||
| ENST00000610537.4:c.1789G>C (ERCC5) | ENSP00000478667.1:p.Val597Leu | |
| NM_000123.3:c.1789G>C , LRG_464t1:c.1789G>C (ERCC5) | NP_000114.2:p.Val597Leu | |
| NM_001204425.1:c.3151G>C (BIVM-ERCC5) | NP_001191354.1:p.Val1051Leu | |
| NM_000123.4:c.1789G>C (ERCC5) MANE Select | NP_000114.3:p.Val597Leu | |
| NM_001204425.2:c.3151G>C (BIVM-ERCC5) | NP_001191354.2:p.Val1051Leu |