Linked Data
ClinVar Variation Id:
310941
dbSNP Id:
rs376411022
ExAC:
13:103528120 C / T
gnomAD v2:
13-103528120-C-T
gnomAD v3:
13-102875770-C-T
gnomAD v4:
13-102875770-C-T
COSMIC:
COSM1365345
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.102875770C>T , CM000675.2:g.102875770C>T | GRCh38 |
| NC_000013.10:g.103528120C>T , CM000675.1:g.103528120C>T | GRCh37 |
| NC_000013.9:g.102326121C>T | NCBI36 |
| NG_007146.1:g.34947C>T , LRG_464:g.34947C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682632.1:n.4529C>T (ERCC5) | ||
| ENST00000682869.1:n.4077C>T (ERCC5) | ||
| ENST00000683246.1:n.5065C>T (ERCC5) | ||
| ENST00000683642.1:n.3658C>T (ERCC5) | ||
| ENST00000639132.1:c.4103C>T (BIVM-ERCC5) | ENSP00000492684.1:p.Ala1368Val | |
| ENST00000639435.1:c.4790C>T (BIVM-ERCC5) | ENSP00000491742.1:p.Ala1597Val | |
| ENST00000651002.1:c.*3189C>T (ERCC5) | ENSP00000498809.1:n.*3189C>T | |
| ENST00000651055.1:n.3555C>T (ERCC5) | ||
| ENST00000651281.1:n.3796C>T (ERCC5) | ||
| ENST00000651387.1:n.2912C>T (ERCC5) | ||
| ENST00000651470.1:c.*600C>T (ERCC5) | ENSP00000498701.1:n.*600C>T | |
| ENST00000652225.2:c.3428C>T (ERCC5) MANE Select | ENSP00000498881.2:p.Ala1143Val | |
| ENST00000652613.1:c.2924C>T (ERCC5) | ENSP00000498357.1:p.Ala975Val | |
| ENST00000355739.8:c.3428C>T (ERCC5) | ENSP00000347978.4:p.Ala1143Val | |
| ENST00000375954.1:c.1127C>T (ERCC5) | ENSP00000365121.1:p.Ala376Val | |
| ENST00000472247.1:n.588C>T (ERCC5) | ||
| ENST00000610537.4:c.3425C>T (ERCC5) | ENSP00000478667.1:p.Ala1142Val | |
| NM_000123.3:c.3428C>T , LRG_464t1:c.3428C>T (ERCC5) | NP_000114.2:p.Ala1143Val | |
| NM_001204425.1:c.4790C>T (BIVM-ERCC5) | NP_001191354.1:p.Ala1597Val | |
| NM_000123.4:c.3428C>T (ERCC5) MANE Select | NP_000114.3:p.Ala1143Val | |
| NM_001204425.2:c.4790C>T (BIVM-ERCC5) | NP_001191354.2:p.Ala1597Val |