Linked Data
ClinVar Variation Id:
1203971
ClinVar RCV Id:
RCV001570201
dbSNP Id:
rs577933109
ExAC:
13:103508507 A / C
gnomAD v2:
13-103508507-A-C
gnomAD v3:
13-102856157-A-C
gnomAD v4:
13-102856157-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.102856157A>C , CM000675.2:g.102856157A>C | GRCh38 |
| NC_000013.10:g.103508507A>C , CM000675.1:g.103508507A>C | GRCh37 |
| NC_000013.9:g.102306508A>C | NCBI36 |
| NG_007146.1:g.15334A>C , LRG_464:g.15334A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682632.1:n.769+45A>C (ERCC5) | ||
| ENST00000682869.1:n.1177+45A>C (ERCC5) | ||
| ENST00000683246.1:n.1305+45A>C (ERCC5) | ||
| ENST00000684184.1:n.1174+45A>C (ERCC5) | ||
| ENST00000639132.1:c.1203+45A>C (BIVM-ERCC5) | ENSP00000492684.1:n.1203+45A>C | |
| ENST00000639435.1:c.1890+45A>C (BIVM-ERCC5) | ENSP00000491742.1:n.1890+45A>C | |
| ENST00000651002.1:c.*289+45A>C (ERCC5) | ENSP00000498809.1:n.*289+45A>C | |
| ENST00000651055.1:n.657+45A>C (ERCC5) | ||
| ENST00000651281.1:n.896+45A>C (ERCC5) | ||
| ENST00000651470.1:c.528+45A>C (ERCC5) | ENSP00000498701.1:n.528+45A>C | |
| ENST00000652225.2:c.528+45A>C (ERCC5) MANE Select | ENSP00000498881.2:n.528+45A>C | |
| ENST00000652613.1:c.24+45A>C (ERCC5) | ENSP00000498357.1:n.24+45A>C | |
| ENST00000355739.8:c.528+45A>C (ERCC5) | ENSP00000347978.4:n.528+45A>C | |
| ENST00000535557.5:c.528+45A>C (ERCC5) | ENSP00000442117.1:n.528+45A>C | |
| ENST00000602836.1:c.1804+45A>C (BIVM-ERCC5) | ||
| ENST00000610537.4:c.528+45A>C (ERCC5) | ENSP00000478667.1:n.528+45A>C | |
| NM_000123.3:c.528+45A>C , LRG_464t1:c.528+45A>C (ERCC5) | NP_000114.2:n.528+45A>C | |
| NM_001204425.1:c.1890+45A>C (BIVM-ERCC5) | NP_001191354.1:n.1890+45A>C | |
| NM_000123.4:c.528+45A>C (ERCC5) MANE Select | NP_000114.3:n.528+45A>C | |
| NM_001204425.2:c.1890+45A>C (BIVM-ERCC5) | NP_001191354.2:n.1890+45A>C |