Linked Data
ClinVar Variation Id:
135536
ClinVar RCV Id:
RCV000122396
dbSNP Id:
rs587777944
gnomAD v2:
13-103498616-C-G
gnomAD v4:
13-102846266-C-G
PubMed:
PMID:24728327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.102846266C>G , CM000675.2:g.102846266C>G | GRCh38 |
| NC_000013.10:g.103498616C>G , CM000675.1:g.103498616C>G | GRCh37 |
| NC_000013.9:g.102296617C>G | NCBI36 |
| NG_007146.1:g.5443C>G , LRG_464:g.5443C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682632.1:n.241C>G (ERCC5) | ||
| ENST00000682869.1:n.234C>G (ERCC5) | ||
| ENST00000683246.1:n.362C>G (ERCC5) | ||
| ENST00000684184.1:n.231C>G (ERCC5) | ||
| ENST00000638434.1:c.363-7491C>G (BIVM-ERCC5) | ||
| ENST00000639118.1:c.363-2852C>G (BIVM-ERCC5) | ||
| ENST00000639132.1:c.764-5852C>G (BIVM-ERCC5) | ENSP00000492684.1:n.764-5852C>G | |
| ENST00000639435.1:c.1451-5852C>G (BIVM-ERCC5) | ENSP00000491742.1:n.1451-5852C>G | |
| ENST00000651002.1:c.-1C>G (ERCC5) | ENSP00000498809.1:n.-1C>G | |
| ENST00000651470.1:c.-1C>G (ERCC5) | ENSP00000498701.1:n.-1C>G | |
| ENST00000652225.2:c.-1C>G (ERCC5) MANE Select | ENSP00000498881.2:n.-1C>G | |
| ENST00000652613.1:c.-498C>G (ERCC5) | ENSP00000498357.1:n.-498C>G | |
| ENST00000355739.8:c.-1C>G (ERCC5) | ENSP00000347978.4:n.-1C>G | |
| ENST00000375958.3:n.155C>G (ERCC5) | ||
| ENST00000472151.1:c.-1C>G (ERCC5) | ENSP00000436083.1:n.-1C>G | |
| ENST00000535557.5:c.-1C>G (ERCC5) | ENSP00000442117.1:n.-1C>G | |
| ENST00000602836.1:c.1365-5852C>G (BIVM-ERCC5) | ||
| ENST00000610537.4:c.-1C>G (ERCC5) | ENSP00000478667.1:n.-1C>G | |
| NM_000123.3:c.-1C>G , LRG_464t1:c.-1C>G (ERCC5) | NP_000114.2:n.-1C>G | |
| NM_001204425.1:c.1451-5852C>G (BIVM-ERCC5) | NP_001191354.1:n.1451-5852C>G | |
| NM_000123.4:c.-1C>G (ERCC5) MANE Select | NP_000114.3:n.-1C>G | |
| NM_001204425.2:c.1451-5852C>G (BIVM-ERCC5) | NP_001191354.2:n.1451-5852C>G |