Linked Data
ClinVar Variation Id:
129009
dbSNP Id:
rs1047768
ExAC:
13:103504517 T / C
gnomAD v2:
13-103504517-T-C
gnomAD v3:
13-102852167-T-C
gnomAD v4:
13-102852167-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.102852167T>C , CM000675.2:g.102852167T>C | GRCh38 |
| NC_000013.10:g.103504517T>C , CM000675.1:g.103504517T>C | GRCh37 |
| NC_000013.9:g.102302518T>C | NCBI36 |
| NG_007146.1:g.11344T>C , LRG_464:g.11344T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682632.1:n.379T>C (ERCC5) | ||
| ENST00000682869.1:n.372T>C (ERCC5) | ||
| ENST00000683246.1:n.500T>C (ERCC5) | ||
| ENST00000684184.1:n.369T>C (ERCC5) | ||
| ENST00000638434.1:c.363-1590T>C (BIVM-ERCC5) | ||
| ENST00000639118.1:c.489T>C (BIVM-ERCC5) | ||
| ENST00000639132.1:c.813T>C (BIVM-ERCC5) | ENSP00000492684.1:p.His271= | |
| ENST00000639435.1:c.1500T>C (BIVM-ERCC5) | ENSP00000491742.1:p.His500= | |
| ENST00000651002.1:c.138T>C (ERCC5) | ENSP00000498809.1:p.His46= | |
| ENST00000651055.1:n.267T>C (ERCC5) | ||
| ENST00000651281.1:n.506T>C (ERCC5) | ||
| ENST00000651470.1:c.138T>C (ERCC5) | ENSP00000498701.1:p.His46= | |
| ENST00000652225.2:c.138T>C (ERCC5) MANE Select | ENSP00000498881.2:p.His46= | |
| ENST00000652613.1:c.-367T>C (ERCC5) | ENSP00000498357.1:n.-367T>C | |
| ENST00000355739.8:c.138T>C (ERCC5) | ENSP00000347978.4:p.His46= | |
| ENST00000375958.3:n.293T>C (ERCC5) | ||
| ENST00000472151.1:c.*43T>C (ERCC5) | ENSP00000436083.1:n.*43T>C | |
| ENST00000535557.5:c.138T>C (ERCC5) | ENSP00000442117.1:p.His46= | |
| ENST00000602836.1:c.1414T>C (BIVM-ERCC5) | ||
| ENST00000610537.4:c.138T>C (ERCC5) | ENSP00000478667.1:p.His46= | |
| NM_000123.3:c.138T>C , LRG_464t1:c.138T>C (ERCC5) | NP_000114.2:p.His46= | |
| NM_001204425.1:c.1500T>C (BIVM-ERCC5) | NP_001191354.1:p.His500= | |
| NM_000123.4:c.138T>C (ERCC5) MANE Select | NP_000114.3:p.His46= | |
| NM_001204425.2:c.1500T>C (BIVM-ERCC5) | NP_001191354.2:p.His500= |