Revel Score:
ENST00000418659
0.030
ENST00000355739
0.030
ENST00000375955
0.030
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.102862735G>A , CM000675.2:g.102862735G>A | GRCh38 |
| NC_000013.10:g.103515085G>A , CM000675.1:g.103515085G>A | GRCh37 |
| NC_000013.9:g.102313086G>A | NCBI36 |
| NG_007146.1:g.21912G>A , LRG_464:g.21912G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682632.1:n.1827G>A (ERCC5) | ||
| ENST00000682869.1:n.2235G>A (ERCC5) | ||
| ENST00000683246.1:n.2363G>A (ERCC5) | ||
| ENST00000639132.1:c.2261G>A (BIVM-ERCC5) | ENSP00000492684.1:p.Cys754Tyr | |
| ENST00000639435.1:c.2948G>A (BIVM-ERCC5) | ENSP00000491742.1:p.Cys983Tyr | |
| ENST00000651002.1:c.*1347G>A (ERCC5) | ENSP00000498809.1:n.*1347G>A | |
| ENST00000651055.1:n.1715G>A (ERCC5) | ||
| ENST00000651281.1:n.1954G>A (ERCC5) | ||
| ENST00000651387.1:n.1070G>A (ERCC5) | ||
| ENST00000651470.1:c.1586G>A (ERCC5) | ENSP00000498701.1:p.Cys529Tyr | |
| ENST00000652225.2:c.1586G>A (ERCC5) MANE Select | ENSP00000498881.2:p.Cys529Tyr | |
| ENST00000652613.1:c.1082G>A (ERCC5) | ENSP00000498357.1:p.Cys361Tyr | |
| ENST00000355739.8:c.1586G>A (ERCC5) | ENSP00000347978.4:p.Cys529Tyr | |
| ENST00000602836.1:c.2862G>A (BIVM-ERCC5) | ||
| ENST00000610537.4:c.1586G>A (ERCC5) | ENSP00000478667.1:p.Cys529Tyr | |
| NM_000123.3:c.1586G>A , LRG_464t1:c.1586G>A (ERCC5) | NP_000114.2:p.Cys529Tyr | |
| NM_001204425.1:c.2948G>A (BIVM-ERCC5) | NP_001191354.1:p.Cys983Tyr | |
| NM_000123.4:c.1586G>A (ERCC5) MANE Select | NP_000114.3:p.Cys529Tyr | |
| NM_001204425.2:c.2948G>A (BIVM-ERCC5) | NP_001191354.2:p.Cys983Tyr |