Linked Data
ClinVar Variation Id:
134175
dbSNP Id:
rs368550097
ExAC:
13:103527687 T / G
gnomAD v2:
13-103527687-T-G
gnomAD v3:
13-102875337-T-G
gnomAD v4:
13-102875337-T-G
COSMIC:
COSM5619887
PubMed:
PMID:24728327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.102875337T>G , CM000675.2:g.102875337T>G | GRCh38 |
| NC_000013.10:g.103527687T>G , CM000675.1:g.103527687T>G | GRCh37 |
| NC_000013.9:g.102325688T>G | NCBI36 |
| NG_007146.1:g.34514T>G , LRG_464:g.34514T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682632.1:n.4096T>G (ERCC5) | ||
| ENST00000682869.1:n.3644T>G (ERCC5) | ||
| ENST00000683246.1:n.4632T>G (ERCC5) | ||
| ENST00000683642.1:n.3225T>G (ERCC5) | ||
| ENST00000639132.1:c.3670T>G (BIVM-ERCC5) | ENSP00000492684.1:p.Leu1224Val | |
| ENST00000639435.1:c.4357T>G (BIVM-ERCC5) | ENSP00000491742.1:p.Leu1453Val | |
| ENST00000651002.1:c.*2756T>G (ERCC5) | ENSP00000498809.1:n.*2756T>G | |
| ENST00000651055.1:n.3122T>G (ERCC5) | ||
| ENST00000651281.1:n.3363T>G (ERCC5) | ||
| ENST00000651387.1:n.2479T>G (ERCC5) | ||
| ENST00000651470.1:c.*167T>G (ERCC5) | ENSP00000498701.1:n.*167T>G | |
| ENST00000652225.2:c.2995T>G (ERCC5) MANE Select | ENSP00000498881.2:p.Leu999Val | |
| ENST00000652613.1:c.2491T>G (ERCC5) | ENSP00000498357.1:p.Leu831Val | |
| ENST00000355739.8:c.2995T>G (ERCC5) | ENSP00000347978.4:p.Leu999Val | |
| ENST00000375954.1:c.694T>G (ERCC5) | ENSP00000365121.1:p.Leu232Val | |
| ENST00000472247.1:n.155T>G (ERCC5) | ||
| ENST00000610537.4:c.2992T>G (ERCC5) | ENSP00000478667.1:p.Leu998Val | |
| NM_000123.3:c.2995T>G , LRG_464t1:c.2995T>G (ERCC5) | NP_000114.2:p.Leu999Val | |
| NM_001204425.1:c.4357T>G (BIVM-ERCC5) | NP_001191354.1:p.Leu1453Val | |
| NM_000123.4:c.2995T>G (ERCC5) MANE Select | NP_000114.3:p.Leu999Val | |
| NM_001204425.2:c.4357T>G (BIVM-ERCC5) | NP_001191354.2:p.Leu1453Val |