Linked Data
ClinVar Variation Id:
129011
dbSNP Id:
rs17655
ExAC:
13:103528002 G / C
gnomAD v2:
13-103528002-G-C
gnomAD v3:
13-102875652-G-C
gnomAD v4:
13-102875652-G-C
PubMed:
PMID:24728327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.102875652G>C , CM000675.2:g.102875652G>C | GRCh38 |
| NC_000013.10:g.103528002G>C , CM000675.1:g.103528002G>C | GRCh37 |
| NC_000013.9:g.102326003G>C | NCBI36 |
| NG_007146.1:g.34829G>C , LRG_464:g.34829G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682632.1:n.4411G>C (ERCC5) | ||
| ENST00000682869.1:n.3959G>C (ERCC5) | ||
| ENST00000683246.1:n.4947G>C (ERCC5) | ||
| ENST00000683642.1:n.3540G>C (ERCC5) | ||
| ENST00000639132.1:c.3985G>C (BIVM-ERCC5) | ENSP00000492684.1:p.Asp1329His | |
| ENST00000639435.1:c.4672G>C (BIVM-ERCC5) | ENSP00000491742.1:p.Asp1558His | |
| ENST00000651002.1:c.*3071G>C (ERCC5) | ENSP00000498809.1:n.*3071G>C | |
| ENST00000651055.1:n.3437G>C (ERCC5) | ||
| ENST00000651281.1:n.3678G>C (ERCC5) | ||
| ENST00000651387.1:n.2794G>C (ERCC5) | ||
| ENST00000651470.1:c.*482G>C (ERCC5) | ENSP00000498701.1:n.*482G>C | |
| ENST00000652225.2:c.3310G>C (ERCC5) MANE Select | ENSP00000498881.2:p.Asp1104His | |
| ENST00000652613.1:c.2806G>C (ERCC5) | ENSP00000498357.1:p.Asp936His | |
| ENST00000355739.8:c.3310G>C (ERCC5) | ENSP00000347978.4:p.Asp1104His | |
| ENST00000375954.1:c.1009G>C (ERCC5) | ENSP00000365121.1:p.Asp337His | |
| ENST00000472247.1:n.470G>C (ERCC5) | ||
| ENST00000610537.4:c.3307G>C (ERCC5) | ENSP00000478667.1:p.Asp1103His | |
| NM_000123.3:c.3310G>C , LRG_464t1:c.3310G>C (ERCC5) | NP_000114.2:p.Asp1104His | |
| NM_001204425.1:c.4672G>C (BIVM-ERCC5) | NP_001191354.1:p.Asp1558His | |
| NM_000123.4:c.3310G>C (ERCC5) MANE Select | NP_000114.3:p.Asp1104His | |
| NM_001204425.2:c.4672G>C (BIVM-ERCC5) | NP_001191354.2:p.Asp1558His |