Linked Data
ClinVar Variation Id:
300084
dbSNP Id:
rs138865542
ExAC:
10:50732247 C / T
gnomAD v2:
10-50732247-C-T
gnomAD v3:
10-49524201-C-T
gnomAD v4:
10-49524201-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.49524201C>T , CM000672.2:g.49524201C>T | GRCh38 |
| NC_000010.10:g.50732247C>T , CM000672.1:g.50732247C>T | GRCh37 |
| NC_000010.9:g.50402253C>T | NCBI36 |
| NG_009442.1:g.19901G>A , LRG_465:g.19901G>A | |
| NG_033155.1:g.5081G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355832.10:c.1229G>A (ERCC6) MANE Select | ENSP00000348089.5:p.Gly410Asp | |
| ENST00000447839.7:c.1229G>A (ERCC6) MANE Plus Clinical | ENSP00000387966.2:p.Gly410Asp | |
| ENST00000679596.1:c.*858G>A (ERCC6) | ENSP00000504862.1:n.*858G>A | |
| ENST00000679811.1:n.1312G>A (ERCC6) | ||
| ENST00000680107.1:c.652+4216G>A (ERCC6) | ENSP00000505909.1:n.652+4216G>A | |
| ENST00000680233.1:n.1322G>A (ERCC6) | ||
| ENST00000681632.1:n.1307G>A (ERCC6) | ||
| ENST00000681659.1:c.1229G>A (ERCC6) | ENSP00000505631.1:p.Gly410Asp | |
| ENST00000355832.9:c.1229G>A (ERCC6) | ENSP00000348089.5:p.Gly410Asp | |
| ENST00000374127.3:c.-176G>A | ENSP00000363242.3:n.-176G>A | |
| ENST00000447839.6:c.1229G>A | ENSP00000387966.2:p.Gly410Asp | |
| ENST00000515869.1:c.1229G>A | ENSP00000423550.1:p.Gly410Asp | |
| NM_000124.3:c.1229G>A (ERCC6) | NP_000115.1:p.Gly410Asp | |
| NM_001277058.1:c.1229G>A | NP_001263987.1:p.Gly410Asp | |
| NM_001277059.1:c.1229G>A | NP_001263988.1:p.Gly410Asp | |
| NM_170753.3:c.-176G>A (PGBD3) | NP_736609.2:n.-176G>A | |
| NM_001346440.1:c.1229G>A (ERCC6) | NP_001333369.1:p.Gly410Asp | |
| NM_000124.4:c.1229G>A (ERCC6) MANE Select | NP_000115.1:p.Gly410Asp | |
| NM_001277058.2:c.1229G>A (ERCC6) MANE Plus Clinical | NP_001263987.1:p.Gly410Asp | |
| NM_001277059.2:c.1229G>A (ERCC6) | NP_001263988.1:p.Gly410Asp | |
| NM_001346440.2:c.1229G>A (ERCC6) | NP_001333369.1:p.Gly410Asp |