Linked Data
ClinVar Variation Id:
310943
dbSNP Id:
rs148782406
ExAC:
13:103528184 C / A
gnomAD v2:
13-103528184-C-A
gnomAD v3:
13-102875834-C-A
gnomAD v4:
13-102875834-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.102875834C>A , CM000675.2:g.102875834C>A | GRCh38 |
| NC_000013.10:g.103528184C>A , CM000675.1:g.103528184C>A | GRCh37 |
| NC_000013.9:g.102326185C>A | NCBI36 |
| NG_007146.1:g.35011C>A , LRG_464:g.35011C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682632.1:n.4593C>A (ERCC5) | ||
| ENST00000682869.1:n.4141C>A (ERCC5) | ||
| ENST00000683246.1:n.5129C>A (ERCC5) | ||
| ENST00000683642.1:n.3722C>A (ERCC5) | ||
| ENST00000639132.1:c.4167C>A (BIVM-ERCC5) | ENSP00000492684.1:p.Thr1389= | |
| ENST00000639435.1:c.4854C>A (BIVM-ERCC5) | ENSP00000491742.1:p.Thr1618= | |
| ENST00000651002.1:c.*3253C>A (ERCC5) | ENSP00000498809.1:n.*3253C>A | |
| ENST00000651055.1:n.3619C>A (ERCC5) | ||
| ENST00000651281.1:n.3860C>A (ERCC5) | ||
| ENST00000651387.1:n.2976C>A (ERCC5) | ||
| ENST00000651470.1:c.*664C>A (ERCC5) | ENSP00000498701.1:n.*664C>A | |
| ENST00000652225.2:c.3492C>A (ERCC5) MANE Select | ENSP00000498881.2:p.Thr1164= | |
| ENST00000652613.1:c.2988C>A (ERCC5) | ENSP00000498357.1:p.Thr996= | |
| ENST00000355739.8:c.3492C>A (ERCC5) | ENSP00000347978.4:p.Thr1164= | |
| ENST00000375954.1:c.1191C>A (ERCC5) | ENSP00000365121.1:p.Thr397= | |
| ENST00000472247.1:n.652C>A (ERCC5) | ||
| ENST00000610537.4:c.3489C>A (ERCC5) | ENSP00000478667.1:p.Thr1163= | |
| NM_000123.3:c.3492C>A , LRG_464t1:c.3492C>A (ERCC5) | NP_000114.2:p.Thr1164= | |
| NM_001204425.1:c.4854C>A (BIVM-ERCC5) | NP_001191354.1:p.Thr1618= | |
| NM_000123.4:c.3492C>A (ERCC5) MANE Select | NP_000114.3:p.Thr1164= | |
| NM_001204425.2:c.4854C>A (BIVM-ERCC5) | NP_001191354.2:p.Thr1618= |