Linked Data
dbSNP Id:
rs765804443
ExAC:
13:103527962 G / C
gnomAD v2:
13-103527962-G-C
gnomAD v4:
13-102875612-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.102875612G>C , CM000675.2:g.102875612G>C | GRCh38 |
| NC_000013.10:g.103527962G>C , CM000675.1:g.103527962G>C | GRCh37 |
| NC_000013.9:g.102325963G>C | NCBI36 |
| NG_007146.1:g.34789G>C , LRG_464:g.34789G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682632.1:n.4371G>C (ERCC5) | ||
| ENST00000682869.1:n.3919G>C (ERCC5) | ||
| ENST00000683246.1:n.4907G>C (ERCC5) | ||
| ENST00000683642.1:n.3500G>C (ERCC5) | ||
| ENST00000639132.1:c.3945G>C (BIVM-ERCC5) | ENSP00000492684.1:p.Glu1315Asp | |
| ENST00000639435.1:c.4632G>C (BIVM-ERCC5) | ENSP00000491742.1:p.Glu1544Asp | |
| ENST00000651002.1:c.*3031G>C (ERCC5) | ENSP00000498809.1:n.*3031G>C | |
| ENST00000651055.1:n.3397G>C (ERCC5) | ||
| ENST00000651281.1:n.3638G>C (ERCC5) | ||
| ENST00000651387.1:n.2754G>C (ERCC5) | ||
| ENST00000651470.1:c.*442G>C (ERCC5) | ENSP00000498701.1:n.*442G>C | |
| ENST00000652225.2:c.3270G>C (ERCC5) MANE Select | ENSP00000498881.2:p.Glu1090Asp | |
| ENST00000652613.1:c.2766G>C (ERCC5) | ENSP00000498357.1:p.Glu922Asp | |
| ENST00000355739.8:c.3270G>C (ERCC5) | ENSP00000347978.4:p.Glu1090Asp | |
| ENST00000375954.1:c.969G>C (ERCC5) | ENSP00000365121.1:p.Glu323Asp | |
| ENST00000472247.1:n.430G>C (ERCC5) | ||
| ENST00000610537.4:c.3267G>C (ERCC5) | ENSP00000478667.1:p.Glu1089Asp | |
| NM_000123.3:c.3270G>C , LRG_464t1:c.3270G>C (ERCC5) | NP_000114.2:p.Glu1090Asp | |
| NM_001204425.1:c.4632G>C (BIVM-ERCC5) | NP_001191354.1:p.Glu1544Asp | |
| NM_000123.4:c.3270G>C (ERCC5) MANE Select | NP_000114.3:p.Glu1090Asp | |
| NM_001204425.2:c.4632G>C (BIVM-ERCC5) | NP_001191354.2:p.Glu1544Asp |