Linked Data
ClinVar Variation Id:
16570
ClinVar RCV Id:
RCV000018038
dbSNP Id:
rs121434572
ExAC:
13:103513971 C / T
gnomAD v2:
13-103513971-C-T
gnomAD v3:
13-102861621-C-T
gnomAD v4:
13-102861621-C-T
PubMed:
PMID:9096355
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.102861621C>T , CM000675.2:g.102861621C>T | GRCh38 |
| NC_000013.10:g.103513971C>T , CM000675.1:g.103513971C>T | GRCh37 |
| NC_000013.9:g.102311972C>T | NCBI36 |
| NG_007146.1:g.20798C>T , LRG_464:g.20798C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682632.1:n.1028C>T (ERCC5) | ||
| ENST00000682869.1:n.1436C>T (ERCC5) | ||
| ENST00000683246.1:n.1564C>T (ERCC5) | ||
| ENST00000639132.1:c.1462C>T (BIVM-ERCC5) | ENSP00000492684.1:p.Arg488Ter | |
| ENST00000639435.1:c.2149C>T (BIVM-ERCC5) | ENSP00000491742.1:p.Arg717Ter | |
| ENST00000651002.1:c.*548C>T (ERCC5) | ENSP00000498809.1:n.*548C>T | |
| ENST00000651055.1:n.916C>T (ERCC5) | ||
| ENST00000651281.1:n.1155C>T (ERCC5) | ||
| ENST00000651387.1:n.271C>T (ERCC5) | ||
| ENST00000651470.1:c.787C>T (ERCC5) | ENSP00000498701.1:p.Arg263Ter | |
| ENST00000652225.2:c.787C>T (ERCC5) MANE Select | ENSP00000498881.2:p.Arg263Ter | |
| ENST00000652613.1:c.283C>T (ERCC5) | ENSP00000498357.1:p.Arg95Ter | |
| ENST00000355739.8:c.787C>T (ERCC5) | ENSP00000347978.4:p.Arg263Ter | |
| ENST00000602836.1:c.2063C>T (BIVM-ERCC5) | ||
| ENST00000610537.4:c.787C>T (ERCC5) | ENSP00000478667.1:p.Arg263Ter | |
| NM_000123.3:c.787C>T , LRG_464t1:c.787C>T (ERCC5) | NP_000114.2:p.Arg263Ter | |
| NM_001204425.1:c.2149C>T (BIVM-ERCC5) | NP_001191354.1:p.Arg717Ter | |
| NM_000123.4:c.787C>T (ERCC5) MANE Select | NP_000114.3:p.Arg263Ter | |
| NM_001204425.2:c.2149C>T (BIVM-ERCC5) | NP_001191354.2:p.Arg717Ter |