Linked Data
ClinVar Variation Id:
310925
dbSNP Id:
rs765554006
ExAC:
13:103515416 A / G
gnomAD v2:
13-103515416-A-G
gnomAD v4:
13-102863066-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.102863066A>G , CM000675.2:g.102863066A>G | GRCh38 |
| NC_000013.10:g.103515416A>G , CM000675.1:g.103515416A>G | GRCh37 |
| NC_000013.9:g.102313417A>G | NCBI36 |
| NG_007146.1:g.22243A>G , LRG_464:g.22243A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682632.1:n.2158A>G (ERCC5) | ||
| ENST00000682869.1:n.2566A>G (ERCC5) | ||
| ENST00000683246.1:n.2694A>G (ERCC5) | ||
| ENST00000639132.1:c.2592A>G (BIVM-ERCC5) | ENSP00000492684.1:p.Glu864= | |
| ENST00000639435.1:c.3279A>G (BIVM-ERCC5) | ENSP00000491742.1:p.Glu1093= | |
| ENST00000651002.1:c.*1678A>G (ERCC5) | ENSP00000498809.1:n.*1678A>G | |
| ENST00000651055.1:n.2046A>G (ERCC5) | ||
| ENST00000651281.1:n.2285A>G (ERCC5) | ||
| ENST00000651387.1:n.1401A>G (ERCC5) | ||
| ENST00000651470.1:c.1917A>G (ERCC5) | ENSP00000498701.1:p.Glu639= | |
| ENST00000652225.2:c.1917A>G (ERCC5) MANE Select | ENSP00000498881.2:p.Glu639= | |
| ENST00000652613.1:c.1413A>G (ERCC5) | ENSP00000498357.1:p.Glu471= | |
| ENST00000355739.8:c.1917A>G (ERCC5) | ENSP00000347978.4:p.Glu639= | |
| ENST00000602836.1:c.3193A>G (BIVM-ERCC5) | ||
| ENST00000610537.4:c.1917A>G (ERCC5) | ENSP00000478667.1:p.Glu639= | |
| NM_000123.3:c.1917A>G , LRG_464t1:c.1917A>G (ERCC5) | NP_000114.2:p.Glu639= | |
| NM_001204425.1:c.3279A>G (BIVM-ERCC5) | NP_001191354.1:p.Glu1093= | |
| NM_000123.4:c.1917A>G (ERCC5) MANE Select | NP_000114.3:p.Glu639= | |
| NM_001204425.2:c.3279A>G (BIVM-ERCC5) | NP_001191354.2:p.Glu1093= |