Linked Data
dbSNP Id:
rs776091272
ExAC:
13:103527938 T / C
gnomAD v2:
13-103527938-T-C
gnomAD v3:
13-102875588-T-C
gnomAD v4:
13-102875588-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.102875588T>C , CM000675.2:g.102875588T>C | GRCh38 |
| NC_000013.10:g.103527938T>C , CM000675.1:g.103527938T>C | GRCh37 |
| NC_000013.9:g.102325939T>C | NCBI36 |
| NG_007146.1:g.34765T>C , LRG_464:g.34765T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682632.1:n.4347T>C (ERCC5) | ||
| ENST00000682869.1:n.3895T>C (ERCC5) | ||
| ENST00000683246.1:n.4883T>C (ERCC5) | ||
| ENST00000683642.1:n.3476T>C (ERCC5) | ||
| ENST00000639132.1:c.3921T>C (BIVM-ERCC5) | ENSP00000492684.1:p.Asn1307= | |
| ENST00000639435.1:c.4608T>C (BIVM-ERCC5) | ENSP00000491742.1:p.Asn1536= | |
| ENST00000651002.1:c.*3007T>C (ERCC5) | ENSP00000498809.1:n.*3007T>C | |
| ENST00000651055.1:n.3373T>C (ERCC5) | ||
| ENST00000651281.1:n.3614T>C (ERCC5) | ||
| ENST00000651387.1:n.2730T>C (ERCC5) | ||
| ENST00000651470.1:c.*418T>C (ERCC5) | ENSP00000498701.1:n.*418T>C | |
| ENST00000652225.2:c.3246T>C (ERCC5) MANE Select | ENSP00000498881.2:p.Asn1082= | |
| ENST00000652613.1:c.2742T>C (ERCC5) | ENSP00000498357.1:p.Asn914= | |
| ENST00000355739.8:c.3246T>C (ERCC5) | ENSP00000347978.4:p.Asn1082= | |
| ENST00000375954.1:c.945T>C (ERCC5) | ENSP00000365121.1:p.Asn315= | |
| ENST00000472247.1:n.406T>C (ERCC5) | ||
| ENST00000610537.4:c.3243T>C (ERCC5) | ENSP00000478667.1:p.Asn1081= | |
| NM_000123.3:c.3246T>C , LRG_464t1:c.3246T>C (ERCC5) | NP_000114.2:p.Asn1082= | |
| NM_001204425.1:c.4608T>C (BIVM-ERCC5) | NP_001191354.1:p.Asn1536= | |
| NM_000123.4:c.3246T>C (ERCC5) MANE Select | NP_000114.3:p.Asn1082= | |
| NM_001204425.2:c.4608T>C (BIVM-ERCC5) | NP_001191354.2:p.Asn1536= |