Linked Data
dbSNP Id:
rs1351089439
gnomAD v2:
13-103508415-G-A
gnomAD v3:
13-102856065-G-A
gnomAD v4:
13-102856065-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.102856065G>A , CM000675.2:g.102856065G>A | GRCh38 |
| NC_000013.10:g.103508415G>A , CM000675.1:g.103508415G>A | GRCh37 |
| NC_000013.9:g.102306416G>A | NCBI36 |
| NG_007146.1:g.15242G>A , LRG_464:g.15242G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682632.1:n.722G>A (ERCC5) | ||
| ENST00000682869.1:n.1130G>A (ERCC5) | ||
| ENST00000683246.1:n.1258G>A (ERCC5) | ||
| ENST00000684184.1:n.1127G>A (ERCC5) | ||
| ENST00000638434.1:c.579G>A (BIVM-ERCC5) | ||
| ENST00000639132.1:c.1156G>A (BIVM-ERCC5) | ENSP00000492684.1:p.Asp386Asn | |
| ENST00000639435.1:c.1843G>A (BIVM-ERCC5) | ENSP00000491742.1:p.Asp615Asn | |
| ENST00000651002.1:c.*242G>A (ERCC5) | ENSP00000498809.1:n.*242G>A | |
| ENST00000651055.1:n.610G>A (ERCC5) | ||
| ENST00000651281.1:n.849G>A (ERCC5) | ||
| ENST00000651470.1:c.481G>A (ERCC5) | ENSP00000498701.1:p.Asp161Asn | |
| ENST00000652225.2:c.481G>A (ERCC5) MANE Select | ENSP00000498881.2:p.Asp161Asn | |
| ENST00000652613.1:c.-24G>A (ERCC5) | ENSP00000498357.1:n.-24G>A | |
| ENST00000355739.8:c.481G>A (ERCC5) | ENSP00000347978.4:p.Asp161Asn | |
| ENST00000535557.5:c.481G>A (ERCC5) | ENSP00000442117.1:p.Asp161Asn | |
| ENST00000602836.1:c.1757G>A (BIVM-ERCC5) | ||
| ENST00000610537.4:c.481G>A (ERCC5) | ENSP00000478667.1:p.Asp161Asn | |
| NM_000123.3:c.481G>A , LRG_464t1:c.481G>A (ERCC5) | NP_000114.2:p.Asp161Asn | |
| NM_001204425.1:c.1843G>A (BIVM-ERCC5) | NP_001191354.1:p.Asp615Asn | |
| NM_000123.4:c.481G>A (ERCC5) MANE Select | NP_000114.3:p.Asp161Asn | |
| NM_001204425.2:c.1843G>A (BIVM-ERCC5) | NP_001191354.2:p.Asp615Asn |