Linked Data
ClinVar Variation Id:
310924
dbSNP Id:
rs200615101
ExAC:
13:103515140 C / T
gnomAD v2:
13-103515140-C-T
gnomAD v3:
13-102862790-C-T
gnomAD v4:
13-102862790-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.102862790C>T , CM000675.2:g.102862790C>T | GRCh38 |
| NC_000013.10:g.103515140C>T , CM000675.1:g.103515140C>T | GRCh37 |
| NC_000013.9:g.102313141C>T | NCBI36 |
| NG_007146.1:g.21967C>T , LRG_464:g.21967C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682632.1:n.1882C>T (ERCC5) | ||
| ENST00000682869.1:n.2290C>T (ERCC5) | ||
| ENST00000683246.1:n.2418C>T (ERCC5) | ||
| ENST00000639132.1:c.2316C>T (BIVM-ERCC5) | ENSP00000492684.1:p.Asn772= | |
| ENST00000639435.1:c.3003C>T (BIVM-ERCC5) | ENSP00000491742.1:p.Asn1001= | |
| ENST00000651002.1:c.*1402C>T (ERCC5) | ENSP00000498809.1:n.*1402C>T | |
| ENST00000651055.1:n.1770C>T (ERCC5) | ||
| ENST00000651281.1:n.2009C>T (ERCC5) | ||
| ENST00000651387.1:n.1125C>T (ERCC5) | ||
| ENST00000651470.1:c.1641C>T (ERCC5) | ENSP00000498701.1:p.Asn547= | |
| ENST00000652225.2:c.1641C>T (ERCC5) MANE Select | ENSP00000498881.2:p.Asn547= | |
| ENST00000652613.1:c.1137C>T (ERCC5) | ENSP00000498357.1:p.Asn379= | |
| ENST00000355739.8:c.1641C>T (ERCC5) | ENSP00000347978.4:p.Asn547= | |
| ENST00000602836.1:c.2917C>T (BIVM-ERCC5) | ||
| ENST00000610537.4:c.1641C>T (ERCC5) | ENSP00000478667.1:p.Asn547= | |
| NM_000123.3:c.1641C>T , LRG_464t1:c.1641C>T (ERCC5) | NP_000114.2:p.Asn547= | |
| NM_001204425.1:c.3003C>T (BIVM-ERCC5) | NP_001191354.1:p.Asn1001= | |
| NM_000123.4:c.1641C>T (ERCC5) MANE Select | NP_000114.3:p.Asn547= | |
| NM_001204425.2:c.3003C>T (BIVM-ERCC5) | NP_001191354.2:p.Asn1001= |