Linked Data
dbSNP Id:
rs746017131
ExAC:
13:103527943 G / A
gnomAD v2:
13-103527943-G-A
gnomAD v4:
13-102875593-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.102875593G>A , CM000675.2:g.102875593G>A | GRCh38 |
| NC_000013.10:g.103527943G>A , CM000675.1:g.103527943G>A | GRCh37 |
| NC_000013.9:g.102325944G>A | NCBI36 |
| NG_007146.1:g.34770G>A , LRG_464:g.34770G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682632.1:n.4352G>A (ERCC5) | ||
| ENST00000682869.1:n.3900G>A (ERCC5) | ||
| ENST00000683246.1:n.4888G>A (ERCC5) | ||
| ENST00000683642.1:n.3481G>A (ERCC5) | ||
| ENST00000639132.1:c.3926G>A (BIVM-ERCC5) | ENSP00000492684.1:p.Cys1309Tyr | |
| ENST00000639435.1:c.4613G>A (BIVM-ERCC5) | ENSP00000491742.1:p.Cys1538Tyr | |
| ENST00000651002.1:c.*3012G>A (ERCC5) | ENSP00000498809.1:n.*3012G>A | |
| ENST00000651055.1:n.3378G>A (ERCC5) | ||
| ENST00000651281.1:n.3619G>A (ERCC5) | ||
| ENST00000651387.1:n.2735G>A (ERCC5) | ||
| ENST00000651470.1:c.*423G>A (ERCC5) | ENSP00000498701.1:n.*423G>A | |
| ENST00000652225.2:c.3251G>A (ERCC5) MANE Select | ENSP00000498881.2:p.Cys1084Tyr | |
| ENST00000652613.1:c.2747G>A (ERCC5) | ENSP00000498357.1:p.Cys916Tyr | |
| ENST00000355739.8:c.3251G>A (ERCC5) | ENSP00000347978.4:p.Cys1084Tyr | |
| ENST00000375954.1:c.950G>A (ERCC5) | ENSP00000365121.1:p.Cys317Tyr | |
| ENST00000472247.1:n.411G>A (ERCC5) | ||
| ENST00000610537.4:c.3248G>A (ERCC5) | ENSP00000478667.1:p.Cys1083Tyr | |
| NM_000123.3:c.3251G>A , LRG_464t1:c.3251G>A (ERCC5) | NP_000114.2:p.Cys1084Tyr | |
| NM_001204425.1:c.4613G>A (BIVM-ERCC5) | NP_001191354.1:p.Cys1538Tyr | |
| NM_000123.4:c.3251G>A (ERCC5) MANE Select | NP_000114.3:p.Cys1084Tyr | |
| NM_001204425.2:c.4613G>A (BIVM-ERCC5) | NP_001191354.2:p.Cys1538Tyr |