Linked Data
dbSNP Id:
rs765863289
ExAC:
13:103508447 A / G
gnomAD v2:
13-103508447-A-G
gnomAD v4:
13-102856097-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.102856097A>G , CM000675.2:g.102856097A>G | GRCh38 |
| NC_000013.10:g.103508447A>G , CM000675.1:g.103508447A>G | GRCh37 |
| NC_000013.9:g.102306448A>G | NCBI36 |
| NG_007146.1:g.15274A>G , LRG_464:g.15274A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682632.1:n.754A>G (ERCC5) | ||
| ENST00000682869.1:n.1162A>G (ERCC5) | ||
| ENST00000683246.1:n.1290A>G (ERCC5) | ||
| ENST00000684184.1:n.1159A>G (ERCC5) | ||
| ENST00000638434.1:c.611A>G (BIVM-ERCC5) | ||
| ENST00000639132.1:c.1188A>G (BIVM-ERCC5) | ENSP00000492684.1:p.Gln396= | |
| ENST00000639435.1:c.1875A>G (BIVM-ERCC5) | ENSP00000491742.1:p.Gln625= | |
| ENST00000651002.1:c.*274A>G (ERCC5) | ENSP00000498809.1:n.*274A>G | |
| ENST00000651055.1:n.642A>G (ERCC5) | ||
| ENST00000651281.1:n.881A>G (ERCC5) | ||
| ENST00000651470.1:c.513A>G (ERCC5) | ENSP00000498701.1:p.Gln171= | |
| ENST00000652225.2:c.513A>G (ERCC5) MANE Select | ENSP00000498881.2:p.Gln171= | |
| ENST00000652613.1:c.9A>G (ERCC5) | ENSP00000498357.1:p.Gln3= | |
| ENST00000355739.8:c.513A>G (ERCC5) | ENSP00000347978.4:p.Gln171= | |
| ENST00000535557.5:c.513A>G (ERCC5) | ENSP00000442117.1:p.Gln171= | |
| ENST00000602836.1:c.1789A>G (BIVM-ERCC5) | ||
| ENST00000610537.4:c.513A>G (ERCC5) | ENSP00000478667.1:p.Gln171= | |
| NM_000123.3:c.513A>G , LRG_464t1:c.513A>G (ERCC5) | NP_000114.2:p.Gln171= | |
| NM_001204425.1:c.1875A>G (BIVM-ERCC5) | NP_001191354.1:p.Gln625= | |
| NM_000123.4:c.513A>G (ERCC5) MANE Select | NP_000114.3:p.Gln171= | |
| NM_001204425.2:c.1875A>G (BIVM-ERCC5) | NP_001191354.2:p.Gln625= |