gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.8099146 (NFE)
Genomes Max Group AF
0.80799304 (NFE)
Exomes Max Group AF
0.80850075 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.102845848A>G , CM000675.2:g.102845848A>G | GRCh38 |
| NC_000013.10:g.103498198A>G , CM000675.1:g.103498198A>G | GRCh37 |
| NC_000013.9:g.102296199A>G | NCBI36 |
| NG_007146.1:g.5025A>G , LRG_464:g.5025A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000638434.1:c.363-7909A>G (BIVM-ERCC5) | ||
| ENST00000639118.1:c.363-3270A>G (BIVM-ERCC5) | ||
| ENST00000639132.1:c.763+6045A>G (BIVM-ERCC5) | ENSP00000492684.1:n.763+6045A>G | |
| ENST00000639435.1:c.1450+6045A>G (BIVM-ERCC5) | ENSP00000491742.1:n.1450+6045A>G | |
| ENST00000651002.1:c.-419A>G (ERCC5) | ENSP00000498809.1:n.-419A>G | |
| ENST00000355739.8:c.-419A>G (ERCC5) | ENSP00000347978.4:n.-419A>G | |
| ENST00000535557.5:c.-419A>G (ERCC5) | ENSP00000442117.1:n.-419A>G | |
| ENST00000602836.1:c.1364+6045A>G (BIVM-ERCC5) | ||
| NM_000123.3:c.-419A>G , LRG_464t1:c.-419A>G (ERCC5) | NP_000114.2:n.-419A>G | |
| NM_001204425.1:c.1450+6045A>G (BIVM-ERCC5) | NP_001191354.1:n.1450+6045A>G | |
| NM_001204425.2:c.1450+6045A>G (BIVM-ERCC5) | NP_001191354.2:n.1450+6045A>G |