Linked Data
ClinVar Variation Id:
134169
dbSNP Id:
rs2227871
ExAC:
13:103528048 C / T
gnomAD v2:
13-103528048-C-T
gnomAD v3:
13-102875698-C-T
gnomAD v4:
13-102875698-C-T
PubMed:
PMID:24728327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.102875698C>T , CM000675.2:g.102875698C>T | GRCh38 |
| NC_000013.10:g.103528048C>T , CM000675.1:g.103528048C>T | GRCh37 |
| NC_000013.9:g.102326049C>T | NCBI36 |
| NG_007146.1:g.34875C>T , LRG_464:g.34875C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682632.1:n.4457C>T (ERCC5) | ||
| ENST00000682869.1:n.4005C>T (ERCC5) | ||
| ENST00000683246.1:n.4993C>T (ERCC5) | ||
| ENST00000683642.1:n.3586C>T (ERCC5) | ||
| ENST00000639132.1:c.4031C>T (BIVM-ERCC5) | ENSP00000492684.1:p.Ala1344Val | |
| ENST00000639435.1:c.4718C>T (BIVM-ERCC5) | ENSP00000491742.1:p.Ala1573Val | |
| ENST00000651002.1:c.*3117C>T (ERCC5) | ENSP00000498809.1:n.*3117C>T | |
| ENST00000651055.1:n.3483C>T (ERCC5) | ||
| ENST00000651281.1:n.3724C>T (ERCC5) | ||
| ENST00000651387.1:n.2840C>T (ERCC5) | ||
| ENST00000651470.1:c.*528C>T (ERCC5) | ENSP00000498701.1:n.*528C>T | |
| ENST00000652225.2:c.3356C>T (ERCC5) MANE Select | ENSP00000498881.2:p.Ala1119Val | |
| ENST00000652613.1:c.2852C>T (ERCC5) | ENSP00000498357.1:p.Ala951Val | |
| ENST00000355739.8:c.3356C>T (ERCC5) | ENSP00000347978.4:p.Ala1119Val | |
| ENST00000375954.1:c.1055C>T (ERCC5) | ENSP00000365121.1:p.Ala352Val | |
| ENST00000472247.1:n.516C>T (ERCC5) | ||
| ENST00000610537.4:c.3353C>T (ERCC5) | ENSP00000478667.1:p.Ala1118Val | |
| NM_000123.3:c.3356C>T , LRG_464t1:c.3356C>T (ERCC5) | NP_000114.2:p.Ala1119Val | |
| NM_001204425.1:c.4718C>T (BIVM-ERCC5) | NP_001191354.1:p.Ala1573Val | |
| NM_000123.4:c.3356C>T (ERCC5) MANE Select | NP_000114.3:p.Ala1119Val | |
| NM_001204425.2:c.4718C>T (BIVM-ERCC5) | NP_001191354.2:p.Ala1573Val |