Linked Data
ClinVar Variation Id:
16573
ClinVar RCV Id:
RCV000018041
dbSNP Id:
rs121434575
COSMIC:
COSM3466979
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.102868152T>C , CM000675.2:g.102868152T>C | GRCh38 |
| NC_000013.10:g.103520502T>C , CM000675.1:g.103520502T>C | GRCh37 |
| NC_000013.9:g.102318503T>C | NCBI36 |
| NG_007146.1:g.27329T>C , LRG_464:g.27329T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682632.1:n.2814T>C (ERCC5) | ||
| ENST00000682869.1:n.3222T>C (ERCC5) | ||
| ENST00000683246.1:n.3350T>C (ERCC5) | ||
| ENST00000639132.1:c.3248T>C (BIVM-ERCC5) | ENSP00000492684.1:p.Leu1083Pro | |
| ENST00000639435.1:c.3935T>C (BIVM-ERCC5) | ENSP00000491742.1:p.Leu1312Pro | |
| ENST00000651002.1:c.*2334T>C (ERCC5) | ENSP00000498809.1:n.*2334T>C | |
| ENST00000651055.1:n.2702T>C (ERCC5) | ||
| ENST00000651281.1:n.2941T>C (ERCC5) | ||
| ENST00000651387.1:n.2057T>C (ERCC5) | ||
| ENST00000651470.1:c.2573T>C (ERCC5) | ENSP00000498701.1:p.Leu858Pro | |
| ENST00000652225.2:c.2573T>C (ERCC5) MANE Select | ENSP00000498881.2:p.Leu858Pro | |
| ENST00000652613.1:c.2069T>C (ERCC5) | ENSP00000498357.1:p.Leu690Pro | |
| ENST00000355739.8:c.2573T>C (ERCC5) | ENSP00000347978.4:p.Leu858Pro | |
| ENST00000375954.1:c.272T>C (ERCC5) | ENSP00000365121.1:p.Leu91Pro | |
| ENST00000481099.1:n.693T>C (ERCC5) | ||
| ENST00000602836.1:c.3849T>C (BIVM-ERCC5) | ||
| ENST00000610537.4:c.2573T>C (ERCC5) | ENSP00000478667.1:p.Leu858Pro | |
| NM_000123.3:c.2573T>C , LRG_464t1:c.2573T>C (ERCC5) | NP_000114.2:p.Leu858Pro | |
| NM_001204425.1:c.3935T>C (BIVM-ERCC5) | NP_001191354.1:p.Leu1312Pro | |
| NM_000123.4:c.2573T>C (ERCC5) MANE Select | NP_000114.3:p.Leu858Pro | |
| NM_001204425.2:c.3935T>C (BIVM-ERCC5) | NP_001191354.2:p.Leu1312Pro |