Linked Data
dbSNP Id:
rs751121250
ExAC:
13:103508450 A / G
gnomAD v2:
13-103508450-A-G
gnomAD v4:
13-102856100-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.102856100A>G , CM000675.2:g.102856100A>G | GRCh38 |
| NC_000013.10:g.103508450A>G , CM000675.1:g.103508450A>G | GRCh37 |
| NC_000013.9:g.102306451A>G | NCBI36 |
| NG_007146.1:g.15277A>G , LRG_464:g.15277A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682632.1:n.757A>G (ERCC5) | ||
| ENST00000682869.1:n.1165A>G (ERCC5) | ||
| ENST00000683246.1:n.1293A>G (ERCC5) | ||
| ENST00000684184.1:n.1162A>G (ERCC5) | ||
| ENST00000638434.1:c.614A>G (BIVM-ERCC5) | ||
| ENST00000639132.1:c.1191A>G (BIVM-ERCC5) | ENSP00000492684.1:p.Lys397= | |
| ENST00000639435.1:c.1878A>G (BIVM-ERCC5) | ENSP00000491742.1:p.Lys626= | |
| ENST00000651002.1:c.*277A>G (ERCC5) | ENSP00000498809.1:n.*277A>G | |
| ENST00000651055.1:n.645A>G (ERCC5) | ||
| ENST00000651281.1:n.884A>G (ERCC5) | ||
| ENST00000651470.1:c.516A>G (ERCC5) | ENSP00000498701.1:p.Lys172= | |
| ENST00000652225.2:c.516A>G (ERCC5) MANE Select | ENSP00000498881.2:p.Lys172= | |
| ENST00000652613.1:c.12A>G (ERCC5) | ENSP00000498357.1:p.Lys4= | |
| ENST00000355739.8:c.516A>G (ERCC5) | ENSP00000347978.4:p.Lys172= | |
| ENST00000535557.5:c.516A>G (ERCC5) | ENSP00000442117.1:p.Lys172= | |
| ENST00000602836.1:c.1792A>G (BIVM-ERCC5) | ||
| ENST00000610537.4:c.516A>G (ERCC5) | ENSP00000478667.1:p.Lys172= | |
| NM_000123.3:c.516A>G , LRG_464t1:c.516A>G (ERCC5) | NP_000114.2:p.Lys172= | |
| NM_001204425.1:c.1878A>G (BIVM-ERCC5) | NP_001191354.1:p.Lys626= | |
| NM_000123.4:c.516A>G (ERCC5) MANE Select | NP_000114.3:p.Lys172= | |
| NM_001204425.2:c.1878A>G (BIVM-ERCC5) | NP_001191354.2:p.Lys626= |