Linked Data
dbSNP Id:
rs1411988767
gnomAD v2:
13-103515212-G-A
gnomAD v3:
13-102862862-G-A
gnomAD v4:
13-102862862-G-A
COSMIC:
COSM945194
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.102862862G>A , CM000675.2:g.102862862G>A | GRCh38 |
| NC_000013.10:g.103515212G>A , CM000675.1:g.103515212G>A | GRCh37 |
| NC_000013.9:g.102313213G>A | NCBI36 |
| NG_007146.1:g.22039G>A , LRG_464:g.22039G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682632.1:n.1954G>A (ERCC5) | ||
| ENST00000682869.1:n.2362G>A (ERCC5) | ||
| ENST00000683246.1:n.2490G>A (ERCC5) | ||
| ENST00000639132.1:c.2388G>A (BIVM-ERCC5) | ENSP00000492684.1:p.Pro796= | |
| ENST00000639435.1:c.3075G>A (BIVM-ERCC5) | ENSP00000491742.1:p.Pro1025= | |
| ENST00000651002.1:c.*1474G>A (ERCC5) | ENSP00000498809.1:n.*1474G>A | |
| ENST00000651055.1:n.1842G>A (ERCC5) | ||
| ENST00000651281.1:n.2081G>A (ERCC5) | ||
| ENST00000651387.1:n.1197G>A (ERCC5) | ||
| ENST00000651470.1:c.1713G>A (ERCC5) | ENSP00000498701.1:p.Pro571= | |
| ENST00000652225.2:c.1713G>A (ERCC5) MANE Select | ENSP00000498881.2:p.Pro571= | |
| ENST00000652613.1:c.1209G>A (ERCC5) | ENSP00000498357.1:p.Pro403= | |
| ENST00000355739.8:c.1713G>A (ERCC5) | ENSP00000347978.4:p.Pro571= | |
| ENST00000602836.1:c.2989G>A (BIVM-ERCC5) | ||
| ENST00000610537.4:c.1713G>A (ERCC5) | ENSP00000478667.1:p.Pro571= | |
| NM_000123.3:c.1713G>A , LRG_464t1:c.1713G>A (ERCC5) | NP_000114.2:p.Pro571= | |
| NM_001204425.1:c.3075G>A (BIVM-ERCC5) | NP_001191354.1:p.Pro1025= | |
| NM_000123.4:c.1713G>A (ERCC5) MANE Select | NP_000114.3:p.Pro571= | |
| NM_001204425.2:c.3075G>A (BIVM-ERCC5) | NP_001191354.2:p.Pro1025= |