Linked Data
dbSNP Id:
rs4150383
gnomAD v2:
13-103527230-G-A
gnomAD v3:
13-102874880-G-A
gnomAD v4:
13-102874880-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.102874880G>A , CM000675.2:g.102874880G>A | GRCh38 |
| NC_000013.10:g.103527230G>A , CM000675.1:g.103527230G>A | GRCh37 |
| NC_000013.9:g.102325231G>A | NCBI36 |
| NG_007146.1:g.34057G>A , LRG_464:g.34057G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682632.1:n.4066-427G>A (ERCC5) | ||
| ENST00000682869.1:n.3614-427G>A (ERCC5) | ||
| ENST00000683246.1:n.4602-427G>A (ERCC5) | ||
| ENST00000683642.1:n.3195-427G>A (ERCC5) | ||
| ENST00000639132.1:c.3640-427G>A (BIVM-ERCC5) | ENSP00000492684.1:n.3640-427G>A | |
| ENST00000639435.1:c.4327-427G>A (BIVM-ERCC5) | ENSP00000491742.1:n.4327-427G>A | |
| ENST00000651002.1:c.*2726-427G>A (ERCC5) | ENSP00000498809.1:n.*2726-427G>A | |
| ENST00000651055.1:n.3092-427G>A (ERCC5) | ||
| ENST00000651281.1:n.3333-427G>A (ERCC5) | ||
| ENST00000651387.1:n.2449-427G>A (ERCC5) | ||
| ENST00000651470.1:c.*137-427G>A (ERCC5) | ENSP00000498701.1:n.*137-427G>A | |
| ENST00000652225.2:c.2965-427G>A (ERCC5) MANE Select | ENSP00000498881.2:n.2965-427G>A | |
| ENST00000652613.1:c.2461-427G>A (ERCC5) | ENSP00000498357.1:n.2461-427G>A | |
| ENST00000355739.8:c.2965-427G>A (ERCC5) | ENSP00000347978.4:n.2965-427G>A | |
| ENST00000375954.1:c.664-427G>A (ERCC5) | ENSP00000365121.1:n.664-427G>A | |
| ENST00000472247.1:n.124+22G>A (ERCC5) | ||
| ENST00000610537.4:c.2962-427G>A (ERCC5) | ENSP00000478667.1:n.2962-427G>A | |
| NM_000123.3:c.2965-427G>A , LRG_464t1:c.2965-427G>A (ERCC5) | NP_000114.2:n.2965-427G>A | |
| NM_001204425.1:c.4327-427G>A (BIVM-ERCC5) | NP_001191354.1:n.4327-427G>A | |
| NM_000123.4:c.2965-427G>A (ERCC5) MANE Select | NP_000114.3:n.2965-427G>A | |
| NM_001204425.2:c.4327-427G>A (BIVM-ERCC5) | NP_001191354.2:n.4327-427G>A |