Linked Data
ClinVar Variation Id:
134179
dbSNP Id:
rs141369732
ExAC:
13:103510688 C / A
gnomAD v2:
13-103510688-C-A
gnomAD v3:
13-102858338-C-A
gnomAD v4:
13-102858338-C-A
PubMed:
PMID:24728327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.102858338C>A , CM000675.2:g.102858338C>A | GRCh38 |
| NC_000013.10:g.103510688C>A , CM000675.1:g.103510688C>A | GRCh37 |
| NC_000013.9:g.102308689C>A | NCBI36 |
| NG_007146.1:g.17515C>A , LRG_464:g.17515C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682632.1:n.833C>A (ERCC5) | ||
| ENST00000682869.1:n.1241C>A (ERCC5) | ||
| ENST00000683246.1:n.1369C>A (ERCC5) | ||
| ENST00000684184.1:n.1238C>A (ERCC5) | ||
| ENST00000639132.1:c.1267C>A (BIVM-ERCC5) | ENSP00000492684.1:p.Pro423Thr | |
| ENST00000639435.1:c.1954C>A (BIVM-ERCC5) | ENSP00000491742.1:p.Pro652Thr | |
| ENST00000651002.1:c.*353C>A (ERCC5) | ENSP00000498809.1:n.*353C>A | |
| ENST00000651055.1:n.721C>A (ERCC5) | ||
| ENST00000651281.1:n.960C>A (ERCC5) | ||
| ENST00000651470.1:c.592C>A (ERCC5) | ENSP00000498701.1:p.Pro198Thr | |
| ENST00000652225.2:c.592C>A (ERCC5) MANE Select | ENSP00000498881.2:p.Pro198Thr | |
| ENST00000652613.1:c.88C>A (ERCC5) | ENSP00000498357.1:p.Pro30Thr | |
| ENST00000355739.8:c.592C>A (ERCC5) | ENSP00000347978.4:p.Pro198Thr | |
| ENST00000535557.5:c.592C>A (ERCC5) | ENSP00000442117.1:p.Pro198Thr | |
| ENST00000602836.1:c.1868C>A (BIVM-ERCC5) | ||
| ENST00000610537.4:c.592C>A (ERCC5) | ENSP00000478667.1:p.Pro198Thr | |
| NM_000123.3:c.592C>A , LRG_464t1:c.592C>A (ERCC5) | NP_000114.2:p.Pro198Thr | |
| NM_001204425.1:c.1954C>A (BIVM-ERCC5) | NP_001191354.1:p.Pro652Thr | |
| NM_000123.4:c.592C>A (ERCC5) MANE Select | NP_000114.3:p.Pro198Thr | |
| NM_001204425.2:c.1954C>A (BIVM-ERCC5) | NP_001191354.2:p.Pro652Thr |