Linked Data
ClinVar Variation Id:
522358
ClinVar RCV Id:
RCV000625479
dbSNP Id:
rs1244074570
gnomAD v4:
13-102866665-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.102866665C>T , CM000675.2:g.102866665C>T | GRCh38 |
| NC_000013.10:g.103519015C>T , CM000675.1:g.103519015C>T | GRCh37 |
| NC_000013.9:g.102317016C>T | NCBI36 |
| NG_007146.1:g.25842C>T , LRG_464:g.25842C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682632.1:n.2594C>T (ERCC5) | ||
| ENST00000682869.1:n.3002C>T (ERCC5) | ||
| ENST00000683246.1:n.3130C>T (ERCC5) | ||
| ENST00000639132.1:c.3028C>T (BIVM-ERCC5) | ENSP00000492684.1:p.Gln1010Ter | |
| ENST00000639435.1:c.3715C>T (BIVM-ERCC5) | ENSP00000491742.1:p.Gln1239Ter | |
| ENST00000651002.1:c.*2114C>T (ERCC5) | ENSP00000498809.1:n.*2114C>T | |
| ENST00000651055.1:n.2482C>T (ERCC5) | ||
| ENST00000651281.1:n.2721C>T (ERCC5) | ||
| ENST00000651387.1:n.1837C>T (ERCC5) | ||
| ENST00000651470.1:c.2353C>T (ERCC5) | ENSP00000498701.1:p.Gln785Ter | |
| ENST00000652225.2:c.2353C>T (ERCC5) MANE Select | ENSP00000498881.2:p.Gln785Ter | |
| ENST00000652613.1:c.1849C>T (ERCC5) | ENSP00000498357.1:p.Gln617Ter | |
| ENST00000355739.8:c.2353C>T (ERCC5) | ENSP00000347978.4:p.Gln785Ter | |
| ENST00000375954.1:c.52C>T (ERCC5) | ENSP00000365121.1:p.Gln18Ter | |
| ENST00000481099.1:n.473C>T (ERCC5) | ||
| ENST00000602836.1:c.3629C>T (BIVM-ERCC5) | ||
| ENST00000610537.4:c.2353C>T (ERCC5) | ENSP00000478667.1:p.Gln785Ter | |
| NM_000123.3:c.2353C>T , LRG_464t1:c.2353C>T (ERCC5) | NP_000114.2:p.Gln785Ter | |
| NM_001204425.1:c.3715C>T (BIVM-ERCC5) | NP_001191354.1:p.Gln1239Ter | |
| NM_000123.4:c.2353C>T (ERCC5) MANE Select | NP_000114.3:p.Gln785Ter | |
| NM_001204425.2:c.3715C>T (BIVM-ERCC5) | NP_001191354.2:p.Gln1239Ter |