Linked Data
dbSNP Id:
rs750643985
ExAC:
13:103525641 C / T
gnomAD v2:
13-103525641-C-T
gnomAD v3:
13-102873291-C-T
gnomAD v4:
13-102873291-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.102873291C>T , CM000675.2:g.102873291C>T | GRCh38 |
| NC_000013.10:g.103525641C>T , CM000675.1:g.103525641C>T | GRCh37 |
| NC_000013.9:g.102323642C>T | NCBI36 |
| NG_007146.1:g.32468C>T , LRG_464:g.32468C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682632.1:n.4013C>T (ERCC5) | ||
| ENST00000682869.1:n.3561C>T (ERCC5) | ||
| ENST00000683246.1:n.4549C>T (ERCC5) | ||
| ENST00000683642.1:n.3142C>T (ERCC5) | ||
| ENST00000639132.1:c.3587C>T (BIVM-ERCC5) | ENSP00000492684.1:p.Thr1196Met | |
| ENST00000639435.1:c.4274C>T (BIVM-ERCC5) | ENSP00000491742.1:p.Thr1425Met | |
| ENST00000651002.1:c.*2673C>T (ERCC5) | ENSP00000498809.1:n.*2673C>T | |
| ENST00000651055.1:n.3039C>T (ERCC5) | ||
| ENST00000651281.1:n.3280C>T (ERCC5) | ||
| ENST00000651387.1:n.2396C>T (ERCC5) | ||
| ENST00000651470.1:c.*84C>T (ERCC5) | ENSP00000498701.1:n.*84C>T | |
| ENST00000652225.2:c.2912C>T (ERCC5) MANE Select | ENSP00000498881.2:p.Thr971Met | |
| ENST00000652613.1:c.2408C>T (ERCC5) | ENSP00000498357.1:p.Thr803Met | |
| ENST00000355739.8:c.2912C>T (ERCC5) | ENSP00000347978.4:p.Thr971Met | |
| ENST00000375954.1:c.611C>T (ERCC5) | ENSP00000365121.1:p.Thr204Met | |
| ENST00000610537.4:c.2909C>T (ERCC5) | ENSP00000478667.1:p.Thr970Met | |
| NM_000123.3:c.2912C>T , LRG_464t1:c.2912C>T (ERCC5) | NP_000114.2:p.Thr971Met | |
| NM_001204425.1:c.4274C>T (BIVM-ERCC5) | NP_001191354.1:p.Thr1425Met | |
| NM_000123.4:c.2912C>T (ERCC5) MANE Select | NP_000114.3:p.Thr971Met | |
| NM_001204425.2:c.4274C>T (BIVM-ERCC5) | NP_001191354.2:p.Thr1425Met |