Linked Data
ClinVar Variation Id:
225904
ClinVar RCV Id:
RCV000211123
dbSNP Id:
rs878854403
PubMed:
PMID:26218421
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.49516282C>T , CM000672.2:g.49516282C>T | GRCh38 |
| NC_000010.10:g.50724328C>T , CM000672.1:g.50724328C>T | GRCh37 |
| NC_000010.9:g.50394334C>T | NCBI36 |
| NG_009442.1:g.27820G>A , LRG_465:g.27820G>A | |
| NG_033155.1:g.13000G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000355832.10:c.1397+7751G>A (ERCC6) MANE Select | ENSP00000348089.5:n.1397+7751G>A | |
| ENST00000447839.7:c.2237G>A (ERCC6) MANE Plus Clinical | ENSP00000387966.2:p.Gly746Asp | |
| ENST00000679596.1:c.*1866G>A (ERCC6) | ENSP00000504862.1:n.*1866G>A | |
| ENST00000679811.1:n.1480+7751G>A (ERCC6) | ||
| ENST00000680107.1:c.*817G>A (ERCC6) | ENSP00000505909.1:n.*817G>A | |
| ENST00000681632.1:n.1475+7751G>A (ERCC6) | ||
| ENST00000681659.1:c.1397+7751G>A (ERCC6) | ENSP00000505631.1:n.1397+7751G>A | |
| ENST00000355832.9:c.1397+7751G>A (ERCC6) | ENSP00000348089.5:n.1397+7751G>A | |
| ENST00000374127.3:c.833G>A | ENSP00000363242.3:p.Gly278Asp | |
| ENST00000447839.6:c.2237G>A | ENSP00000387966.2:p.Gly746Asp | |
| ENST00000515869.1:c.2237G>A | ENSP00000423550.1:p.Gly746Asp | |
| NM_000124.3:c.1397+7751G>A (ERCC6) | NP_000115.1:n.1397+7751G>A | |
| NM_001277058.1:c.2237G>A | NP_001263987.1:p.Gly746Asp | |
| NM_001277059.1:c.2237G>A | NP_001263988.1:p.Gly746Asp | |
| NM_170753.3:c.833G>A (PGBD3) | NP_736609.2:p.Gly278Asp | |
| NM_001346440.1:c.1397+7751G>A (ERCC6) | NP_001333369.1:n.1397+7751G>A | |
| NM_000124.4:c.1397+7751G>A (ERCC6) MANE Select | NP_000115.1:n.1397+7751G>A | |
| NM_001277058.2:c.2237G>A (ERCC6) MANE Plus Clinical | NP_001263987.1:p.Gly746Asp | |
| NM_001277059.2:c.2237G>A (ERCC6) | NP_001263988.1:p.Gly746Asp | |
| NM_001346440.2:c.1397+7751G>A (ERCC6) | NP_001333369.1:n.1397+7751G>A |