Linked Data
dbSNP Id:
rs1279793112
gnomAD v2:
13-103527940-C-G
gnomAD v3:
13-102875590-C-G
gnomAD v4:
13-102875590-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.102875590C>G , CM000675.2:g.102875590C>G | GRCh38 |
| NC_000013.10:g.103527940C>G , CM000675.1:g.103527940C>G | GRCh37 |
| NC_000013.9:g.102325941C>G | NCBI36 |
| NG_007146.1:g.34767C>G , LRG_464:g.34767C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682632.1:n.4349C>G (ERCC5) | ||
| ENST00000682869.1:n.3897C>G (ERCC5) | ||
| ENST00000683246.1:n.4885C>G (ERCC5) | ||
| ENST00000683642.1:n.3478C>G (ERCC5) | ||
| ENST00000639132.1:c.3923C>G (BIVM-ERCC5) | ENSP00000492684.1:p.Thr1308Arg | |
| ENST00000639435.1:c.4610C>G (BIVM-ERCC5) | ENSP00000491742.1:p.Thr1537Arg | |
| ENST00000651002.1:c.*3009C>G (ERCC5) | ENSP00000498809.1:n.*3009C>G | |
| ENST00000651055.1:n.3375C>G (ERCC5) | ||
| ENST00000651281.1:n.3616C>G (ERCC5) | ||
| ENST00000651387.1:n.2732C>G (ERCC5) | ||
| ENST00000651470.1:c.*420C>G (ERCC5) | ENSP00000498701.1:n.*420C>G | |
| ENST00000652225.2:c.3248C>G (ERCC5) MANE Select | ENSP00000498881.2:p.Thr1083Arg | |
| ENST00000652613.1:c.2744C>G (ERCC5) | ENSP00000498357.1:p.Thr915Arg | |
| ENST00000355739.8:c.3248C>G (ERCC5) | ENSP00000347978.4:p.Thr1083Arg | |
| ENST00000375954.1:c.947C>G (ERCC5) | ENSP00000365121.1:p.Thr316Arg | |
| ENST00000472247.1:n.408C>G (ERCC5) | ||
| ENST00000610537.4:c.3245C>G (ERCC5) | ENSP00000478667.1:p.Thr1082Arg | |
| NM_000123.3:c.3248C>G , LRG_464t1:c.3248C>G (ERCC5) | NP_000114.2:p.Thr1083Arg | |
| NM_001204425.1:c.4610C>G (BIVM-ERCC5) | NP_001191354.1:p.Thr1537Arg | |
| NM_000123.4:c.3248C>G (ERCC5) MANE Select | NP_000114.3:p.Thr1083Arg | |
| NM_001204425.2:c.4610C>G (BIVM-ERCC5) | NP_001191354.2:p.Thr1537Arg |