Linked Data
dbSNP Id:
rs111985238
gnomAD v2:
13-103498455-T-G
gnomAD v3:
13-102846105-T-G
gnomAD v4:
13-102846105-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.102846105T>G , CM000675.2:g.102846105T>G | GRCh38 |
| NC_000013.10:g.103498455T>G , CM000675.1:g.103498455T>G | GRCh37 |
| NC_000013.9:g.102296456T>G | NCBI36 |
| NG_007146.1:g.5282T>G , LRG_464:g.5282T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682632.1:n.80T>G (ERCC5) | ||
| ENST00000682869.1:n.73T>G (ERCC5) | ||
| ENST00000683246.1:n.201T>G (ERCC5) | ||
| ENST00000684184.1:n.70T>G (ERCC5) | ||
| ENST00000638434.1:c.363-7652T>G (BIVM-ERCC5) | ||
| ENST00000639118.1:c.363-3013T>G (BIVM-ERCC5) | ||
| ENST00000639132.1:c.764-6013T>G (BIVM-ERCC5) | ENSP00000492684.1:n.764-6013T>G | |
| ENST00000639435.1:c.1451-6013T>G (BIVM-ERCC5) | ENSP00000491742.1:n.1451-6013T>G | |
| ENST00000651002.1:c.-162T>G (ERCC5) | ENSP00000498809.1:n.-162T>G | |
| ENST00000652225.2:c.-162T>G (ERCC5) MANE Select | ENSP00000498881.2:n.-162T>G | |
| ENST00000652613.1:c.-659T>G (ERCC5) | ENSP00000498357.1:n.-659T>G | |
| ENST00000355739.8:c.-162T>G (ERCC5) | ENSP00000347978.4:n.-162T>G | |
| ENST00000472151.1:c.-162T>G (ERCC5) | ENSP00000436083.1:n.-162T>G | |
| ENST00000535557.5:c.-162T>G (ERCC5) | ENSP00000442117.1:n.-162T>G | |
| ENST00000602836.1:c.1365-6013T>G (BIVM-ERCC5) | ||
| NM_000123.3:c.-162T>G , LRG_464t1:c.-162T>G (ERCC5) | NP_000114.2:n.-162T>G | |
| NM_001204425.1:c.1451-6013T>G (BIVM-ERCC5) | NP_001191354.1:n.1451-6013T>G | |
| NM_000123.4:c.-162T>G (ERCC5) MANE Select | NP_000114.3:n.-162T>G | |
| NM_001204425.2:c.1451-6013T>G (BIVM-ERCC5) | NP_001191354.2:n.1451-6013T>G |