Linked Data
dbSNP Id:
rs192649904
gnomAD v2:
13-103498033-C-G
gnomAD v3:
13-102845683-C-G
gnomAD v4:
13-102845683-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.102845683C>G , CM000675.2:g.102845683C>G | GRCh38 |
| NC_000013.10:g.103498033C>G , CM000675.1:g.103498033C>G | GRCh37 |
| NC_000013.9:g.102296034C>G | NCBI36 |
| NG_007146.1:g.4860C>G , LRG_464:g.4860C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000638434.1:c.363-8074C>G (BIVM-ERCC5) | ||
| ENST00000639118.1:c.363-3435C>G (BIVM-ERCC5) | ||
| ENST00000639132.1:c.763+5880C>G (BIVM-ERCC5) | ENSP00000492684.1:n.763+5880C>G | |
| ENST00000639435.1:c.1450+5880C>G (BIVM-ERCC5) | ENSP00000491742.1:n.1450+5880C>G | |
| ENST00000355739.8:c.-584C>G (ERCC5) | ENSP00000347978.4:n.-584C>G | |
| ENST00000602836.1:c.1364+5880C>G (BIVM-ERCC5) | ||
| NM_001204425.1:c.1450+5880C>G (BIVM-ERCC5) | NP_001191354.1:n.1450+5880C>G | |
| NM_001204425.2:c.1450+5880C>G (BIVM-ERCC5) | NP_001191354.2:n.1450+5880C>G |