Linked Data
dbSNP Id:
rs780960649
ExAC:
13:103527927 A / G
gnomAD v2:
13-103527927-A-G
gnomAD v3:
13-102875577-A-G
gnomAD v4:
13-102875577-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.102875577A>G , CM000675.2:g.102875577A>G | GRCh38 |
| NC_000013.10:g.103527927A>G , CM000675.1:g.103527927A>G | GRCh37 |
| NC_000013.9:g.102325928A>G | NCBI36 |
| NG_007146.1:g.34754A>G , LRG_464:g.34754A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682632.1:n.4336A>G (ERCC5) | ||
| ENST00000682869.1:n.3884A>G (ERCC5) | ||
| ENST00000683246.1:n.4872A>G (ERCC5) | ||
| ENST00000683642.1:n.3465A>G (ERCC5) | ||
| ENST00000639132.1:c.3910A>G (BIVM-ERCC5) | ENSP00000492684.1:p.Lys1304Glu | |
| ENST00000639435.1:c.4597A>G (BIVM-ERCC5) | ENSP00000491742.1:p.Lys1533Glu | |
| ENST00000651002.1:c.*2996A>G (ERCC5) | ENSP00000498809.1:n.*2996A>G | |
| ENST00000651055.1:n.3362A>G (ERCC5) | ||
| ENST00000651281.1:n.3603A>G (ERCC5) | ||
| ENST00000651387.1:n.2719A>G (ERCC5) | ||
| ENST00000651470.1:c.*407A>G (ERCC5) | ENSP00000498701.1:n.*407A>G | |
| ENST00000652225.2:c.3235A>G (ERCC5) MANE Select | ENSP00000498881.2:p.Lys1079Glu | |
| ENST00000652613.1:c.2731A>G (ERCC5) | ENSP00000498357.1:p.Lys911Glu | |
| ENST00000355739.8:c.3235A>G (ERCC5) | ENSP00000347978.4:p.Lys1079Glu | |
| ENST00000375954.1:c.934A>G (ERCC5) | ENSP00000365121.1:p.Lys312Glu | |
| ENST00000472247.1:n.395A>G (ERCC5) | ||
| ENST00000610537.4:c.3232A>G (ERCC5) | ENSP00000478667.1:p.Lys1078Glu | |
| NM_000123.3:c.3235A>G , LRG_464t1:c.3235A>G (ERCC5) | NP_000114.2:p.Lys1079Glu | |
| NM_001204425.1:c.4597A>G (BIVM-ERCC5) | NP_001191354.1:p.Lys1533Glu | |
| NM_000123.4:c.3235A>G (ERCC5) MANE Select | NP_000114.3:p.Lys1079Glu | |
| NM_001204425.2:c.4597A>G (BIVM-ERCC5) | NP_001191354.2:p.Lys1533Glu |