Linked Data
ClinVar Variation Id:
310927
dbSNP Id:
rs2228959
ExAC:
13:103518162 C / A
gnomAD v2:
13-103518162-C-A
gnomAD v3:
13-102865812-C-A
gnomAD v4:
13-102865812-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.102865812C>A , CM000675.2:g.102865812C>A | GRCh38 |
| NC_000013.10:g.103518162C>A , CM000675.1:g.103518162C>A | GRCh37 |
| NC_000013.9:g.102316163C>A | NCBI36 |
| NG_007146.1:g.24989C>A , LRG_464:g.24989C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682632.1:n.2341C>A (ERCC5) | ||
| ENST00000682869.1:n.2749C>A (ERCC5) | ||
| ENST00000683246.1:n.2877C>A (ERCC5) | ||
| ENST00000639132.1:c.2775C>A (BIVM-ERCC5) | ENSP00000492684.1:p.Leu925= | |
| ENST00000639435.1:c.3462C>A (BIVM-ERCC5) | ENSP00000491742.1:p.Leu1154= | |
| ENST00000651002.1:c.*1861C>A (ERCC5) | ENSP00000498809.1:n.*1861C>A | |
| ENST00000651055.1:n.2229C>A (ERCC5) | ||
| ENST00000651281.1:n.2468C>A (ERCC5) | ||
| ENST00000651387.1:n.1584C>A (ERCC5) | ||
| ENST00000651470.1:c.2100C>A (ERCC5) | ENSP00000498701.1:p.Leu700= | |
| ENST00000652225.2:c.2100C>A (ERCC5) MANE Select | ENSP00000498881.2:p.Leu700= | |
| ENST00000652613.1:c.1596C>A (ERCC5) | ENSP00000498357.1:p.Leu532= | |
| ENST00000355739.8:c.2100C>A (ERCC5) | ENSP00000347978.4:p.Leu700= | |
| ENST00000375954.1:c.-552C>A (ERCC5) | ENSP00000365121.1:n.-552C>A | |
| ENST00000602836.1:c.3376C>A (BIVM-ERCC5) | ||
| ENST00000610537.4:c.2100C>A (ERCC5) | ENSP00000478667.1:p.Leu700= | |
| NM_000123.3:c.2100C>A , LRG_464t1:c.2100C>A (ERCC5) | NP_000114.2:p.Leu700= | |
| NM_001204425.1:c.3462C>A (BIVM-ERCC5) | NP_001191354.1:p.Leu1154= | |
| NM_000123.4:c.2100C>A (ERCC5) MANE Select | NP_000114.3:p.Leu700= | |
| NM_001204425.2:c.3462C>A (BIVM-ERCC5) | NP_001191354.2:p.Leu1154= |