Linked Data
dbSNP Id:
rs751060625
ExAC:
13:103527963 A / C
gnomAD v2:
13-103527963-A-C
gnomAD v4:
13-102875613-A-C
MyVariant Identifiers:
chr13:g.103527963A>C (hg19)
chr13:g.103527963_103527964delinsCC (hg19)
chr13:g.102875613A>C (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.102875613A>C , CM000675.2:g.102875613A>C | GRCh38 |
| NC_000013.10:g.103527963A>C , CM000675.1:g.103527963A>C | GRCh37 |
| NC_000013.9:g.102325964A>C | NCBI36 |
| NG_007146.1:g.34790A>C , LRG_464:g.34790A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682632.1:n.4372A>C (ERCC5) | ||
| ENST00000682869.1:n.3920A>C (ERCC5) | ||
| ENST00000683246.1:n.4908A>C (ERCC5) | ||
| ENST00000683642.1:n.3501A>C (ERCC5) | ||
| ENST00000639132.1:c.3946A>C (BIVM-ERCC5) | ENSP00000492684.1:p.Thr1316Pro | |
| ENST00000639435.1:c.4633A>C (BIVM-ERCC5) | ENSP00000491742.1:p.Thr1545Pro | |
| ENST00000651002.1:c.*3032A>C (ERCC5) | ENSP00000498809.1:n.*3032A>C | |
| ENST00000651055.1:n.3398A>C (ERCC5) | ||
| ENST00000651281.1:n.3639A>C (ERCC5) | ||
| ENST00000651387.1:n.2755A>C (ERCC5) | ||
| ENST00000651470.1:c.*443A>C (ERCC5) | ENSP00000498701.1:n.*443A>C | |
| ENST00000652225.2:c.3271A>C (ERCC5) MANE Select | ENSP00000498881.2:p.Thr1091Pro | |
| ENST00000652613.1:c.2767A>C (ERCC5) | ENSP00000498357.1:p.Thr923Pro | |
| ENST00000355739.8:c.3271A>C (ERCC5) | ENSP00000347978.4:p.Thr1091Pro | |
| ENST00000375954.1:c.970A>C (ERCC5) | ENSP00000365121.1:p.Thr324Pro | |
| ENST00000472247.1:n.431A>C (ERCC5) | ||
| ENST00000610537.4:c.3268A>C (ERCC5) | ENSP00000478667.1:p.Thr1090Pro | |
| NM_000123.3:c.3271A>C , LRG_464t1:c.3271A>C (ERCC5) | NP_000114.2:p.Thr1091Pro | |
| NM_001204425.1:c.4633A>C (BIVM-ERCC5) | NP_001191354.1:p.Thr1545Pro | |
| NM_000123.4:c.3271A>C (ERCC5) MANE Select | NP_000114.3:p.Thr1091Pro | |
| NM_001204425.2:c.4633A>C (BIVM-ERCC5) | NP_001191354.2:p.Thr1545Pro |