Linked Data
ClinVar Variation Id:
310933
dbSNP Id:
rs199562917
ExAC:
13:103520453 T / G
gnomAD v2:
13-103520453-T-G
gnomAD v3:
13-102868103-T-G
gnomAD v4:
13-102868103-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.102868103T>G , CM000675.2:g.102868103T>G | GRCh38 |
| NC_000013.10:g.103520453T>G , CM000675.1:g.103520453T>G | GRCh37 |
| NC_000013.9:g.102318454T>G | NCBI36 |
| NG_007146.1:g.27280T>G , LRG_464:g.27280T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682632.1:n.2775-10T>G (ERCC5) | ||
| ENST00000682869.1:n.3183-10T>G (ERCC5) | ||
| ENST00000683246.1:n.3311-10T>G (ERCC5) | ||
| ENST00000639132.1:c.3209-10T>G (BIVM-ERCC5) | ENSP00000492684.1:n.3209-10T>G | |
| ENST00000639435.1:c.3896-10T>G (BIVM-ERCC5) | ENSP00000491742.1:n.3896-10T>G | |
| ENST00000651002.1:c.*2295-10T>G (ERCC5) | ENSP00000498809.1:n.*2295-10T>G | |
| ENST00000651055.1:n.2663-10T>G (ERCC5) | ||
| ENST00000651281.1:n.2902-10T>G (ERCC5) | ||
| ENST00000651387.1:n.2018-10T>G (ERCC5) | ||
| ENST00000651470.1:c.2534-10T>G (ERCC5) | ENSP00000498701.1:n.2534-10T>G | |
| ENST00000652225.2:c.2534-10T>G (ERCC5) MANE Select | ENSP00000498881.2:n.2534-10T>G | |
| ENST00000652613.1:c.2030-10T>G (ERCC5) | ENSP00000498357.1:n.2030-10T>G | |
| ENST00000355739.8:c.2534-10T>G (ERCC5) | ENSP00000347978.4:n.2534-10T>G | |
| ENST00000375954.1:c.233-10T>G (ERCC5) | ENSP00000365121.1:n.233-10T>G | |
| ENST00000481099.1:n.654-10T>G (ERCC5) | ||
| ENST00000602836.1:c.3810-10T>G (BIVM-ERCC5) | ||
| ENST00000610537.4:c.2534-10T>G (ERCC5) | ENSP00000478667.1:n.2534-10T>G | |
| NM_000123.3:c.2534-10T>G , LRG_464t1:c.2534-10T>G (ERCC5) | NP_000114.2:n.2534-10T>G | |
| NM_001204425.1:c.3896-10T>G (BIVM-ERCC5) | NP_001191354.1:n.3896-10T>G | |
| NM_000123.4:c.2534-10T>G (ERCC5) MANE Select | NP_000114.3:n.2534-10T>G | |
| NM_001204425.2:c.3896-10T>G (BIVM-ERCC5) | NP_001191354.2:n.3896-10T>G |