Linked Data
dbSNP Id:
rs1037173210
gnomAD v2:
13-103508519-G-T
gnomAD v3:
13-102856169-G-T
gnomAD v4:
13-102856169-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.102856169G>T , CM000675.2:g.102856169G>T | GRCh38 |
| NC_000013.10:g.103508519G>T , CM000675.1:g.103508519G>T | GRCh37 |
| NC_000013.9:g.102306520G>T | NCBI36 |
| NG_007146.1:g.15346G>T , LRG_464:g.15346G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682632.1:n.769+57G>T (ERCC5) | ||
| ENST00000682869.1:n.1177+57G>T (ERCC5) | ||
| ENST00000683246.1:n.1305+57G>T (ERCC5) | ||
| ENST00000684184.1:n.1174+57G>T (ERCC5) | ||
| ENST00000639132.1:c.1203+57G>T (BIVM-ERCC5) | ENSP00000492684.1:n.1203+57G>T | |
| ENST00000639435.1:c.1890+57G>T (BIVM-ERCC5) | ENSP00000491742.1:n.1890+57G>T | |
| ENST00000651002.1:c.*289+57G>T (ERCC5) | ENSP00000498809.1:n.*289+57G>T | |
| ENST00000651055.1:n.657+57G>T (ERCC5) | ||
| ENST00000651281.1:n.896+57G>T (ERCC5) | ||
| ENST00000651470.1:c.528+57G>T (ERCC5) | ENSP00000498701.1:n.528+57G>T | |
| ENST00000652225.2:c.528+57G>T (ERCC5) MANE Select | ENSP00000498881.2:n.528+57G>T | |
| ENST00000652613.1:c.24+57G>T (ERCC5) | ENSP00000498357.1:n.24+57G>T | |
| ENST00000355739.8:c.528+57G>T (ERCC5) | ENSP00000347978.4:n.528+57G>T | |
| ENST00000535557.5:c.528+57G>T (ERCC5) | ENSP00000442117.1:n.528+57G>T | |
| ENST00000602836.1:c.1804+57G>T (BIVM-ERCC5) | ||
| ENST00000610537.4:c.528+57G>T (ERCC5) | ENSP00000478667.1:n.528+57G>T | |
| NM_000123.3:c.528+57G>T , LRG_464t1:c.528+57G>T (ERCC5) | NP_000114.2:n.528+57G>T | |
| NM_001204425.1:c.1890+57G>T (BIVM-ERCC5) | NP_001191354.1:n.1890+57G>T | |
| NM_000123.4:c.528+57G>T (ERCC5) MANE Select | NP_000114.3:n.528+57G>T | |
| NM_001204425.2:c.1890+57G>T (BIVM-ERCC5) | NP_001191354.2:n.1890+57G>T |