Linked Data
ClinVar Variation Id:
310913
dbSNP Id:
rs778333931
ExAC:
13:103506699 C / T
gnomAD v2:
13-103506699-C-T
gnomAD v3:
13-102854349-C-T
gnomAD v4:
13-102854349-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.102854349C>T , CM000675.2:g.102854349C>T | GRCh38 |
| NC_000013.10:g.103506699C>T , CM000675.1:g.103506699C>T | GRCh37 |
| NC_000013.9:g.102304700C>T | NCBI36 |
| NG_007146.1:g.13526C>T , LRG_464:g.13526C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682632.1:n.683C>T (ERCC5) | ||
| ENST00000682869.1:n.1091C>T (ERCC5) | ||
| ENST00000683246.1:n.1219C>T (ERCC5) | ||
| ENST00000684184.1:n.1088C>T (ERCC5) | ||
| ENST00000638434.1:c.540C>T (BIVM-ERCC5) | ||
| ENST00000639132.1:c.1117C>T (BIVM-ERCC5) | ENSP00000492684.1:p.Pro373Ser | |
| ENST00000639435.1:c.1804C>T (BIVM-ERCC5) | ENSP00000491742.1:p.Pro602Ser | |
| ENST00000651002.1:c.*203C>T (ERCC5) | ENSP00000498809.1:n.*203C>T | |
| ENST00000651055.1:n.571C>T (ERCC5) | ||
| ENST00000651281.1:n.810C>T (ERCC5) | ||
| ENST00000651470.1:c.442C>T (ERCC5) | ENSP00000498701.1:p.Pro148Ser | |
| ENST00000652225.2:c.442C>T (ERCC5) MANE Select | ENSP00000498881.2:p.Pro148Ser | |
| ENST00000652613.1:c.-63C>T (ERCC5) | ENSP00000498357.1:n.-63C>T | |
| ENST00000355739.8:c.442C>T (ERCC5) | ENSP00000347978.4:p.Pro148Ser | |
| ENST00000535557.5:c.442C>T (ERCC5) | ENSP00000442117.1:p.Pro148Ser | |
| ENST00000602836.1:c.1718C>T (BIVM-ERCC5) | ||
| ENST00000610537.4:c.442C>T (ERCC5) | ENSP00000478667.1:p.Pro148Ser | |
| NM_000123.3:c.442C>T , LRG_464t1:c.442C>T (ERCC5) | NP_000114.2:p.Pro148Ser | |
| NM_001204425.1:c.1804C>T (BIVM-ERCC5) | NP_001191354.1:p.Pro602Ser | |
| NM_000123.4:c.442C>T (ERCC5) MANE Select | NP_000114.3:p.Pro148Ser | |
| NM_001204425.2:c.1804C>T (BIVM-ERCC5) | NP_001191354.2:p.Pro602Ser |