Linked Data
dbSNP Id:
rs1195056140
gnomAD v2:
13-103498457-C-T
gnomAD v3:
13-102846107-C-T
gnomAD v4:
13-102846107-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.102846107C>T , CM000675.2:g.102846107C>T | GRCh38 |
| NC_000013.10:g.103498457C>T , CM000675.1:g.103498457C>T | GRCh37 |
| NC_000013.9:g.102296458C>T | NCBI36 |
| NG_007146.1:g.5284C>T , LRG_464:g.5284C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682632.1:n.82C>T (ERCC5) | ||
| ENST00000682869.1:n.75C>T (ERCC5) | ||
| ENST00000683246.1:n.203C>T (ERCC5) | ||
| ENST00000684184.1:n.72C>T (ERCC5) | ||
| ENST00000638434.1:c.363-7650C>T (BIVM-ERCC5) | ||
| ENST00000639118.1:c.363-3011C>T (BIVM-ERCC5) | ||
| ENST00000639132.1:c.764-6011C>T (BIVM-ERCC5) | ENSP00000492684.1:n.764-6011C>T | |
| ENST00000639435.1:c.1451-6011C>T (BIVM-ERCC5) | ENSP00000491742.1:n.1451-6011C>T | |
| ENST00000651002.1:c.-160C>T (ERCC5) | ENSP00000498809.1:n.-160C>T | |
| ENST00000652225.2:c.-160C>T (ERCC5) MANE Select | ENSP00000498881.2:n.-160C>T | |
| ENST00000652613.1:c.-657C>T (ERCC5) | ENSP00000498357.1:n.-657C>T | |
| ENST00000355739.8:c.-160C>T (ERCC5) | ENSP00000347978.4:n.-160C>T | |
| ENST00000472151.1:c.-160C>T (ERCC5) | ENSP00000436083.1:n.-160C>T | |
| ENST00000535557.5:c.-160C>T (ERCC5) | ENSP00000442117.1:n.-160C>T | |
| ENST00000602836.1:c.1365-6011C>T (BIVM-ERCC5) | ||
| NM_000123.3:c.-160C>T , LRG_464t1:c.-160C>T (ERCC5) | NP_000114.2:n.-160C>T | |
| NM_001204425.1:c.1451-6011C>T (BIVM-ERCC5) | NP_001191354.1:n.1451-6011C>T | |
| NM_000123.4:c.-160C>T (ERCC5) MANE Select | NP_000114.3:n.-160C>T | |
| NM_001204425.2:c.1451-6011C>T (BIVM-ERCC5) | NP_001191354.2:n.1451-6011C>T |