Linked Data
ClinVar Variation Id:
300086
dbSNP Id:
rs141391984
ExAC:
10:50732318 G / A
gnomAD v2:
10-50732318-G-A
gnomAD v3:
10-49524272-G-A
gnomAD v4:
10-49524272-G-A
COSMIC:
COSM4014458
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.49524272G>A , CM000672.2:g.49524272G>A | GRCh38 |
| NC_000010.10:g.50732318G>A , CM000672.1:g.50732318G>A | GRCh37 |
| NC_000010.9:g.50402324G>A | NCBI36 |
| NG_009442.1:g.19830C>T , LRG_465:g.19830C>T | |
| NG_033155.1:g.5010C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355832.10:c.1158C>T (ERCC6) MANE Select | ENSP00000348089.5:p.Asp386= | |
| ENST00000447839.7:c.1158C>T (ERCC6) MANE Plus Clinical | ENSP00000387966.2:p.Asp386= | |
| ENST00000679596.1:c.*787C>T (ERCC6) | ENSP00000504862.1:n.*787C>T | |
| ENST00000679811.1:n.1241C>T (ERCC6) | ||
| ENST00000680107.1:c.652+4145C>T (ERCC6) | ENSP00000505909.1:n.652+4145C>T | |
| ENST00000680233.1:n.1251C>T (ERCC6) | ||
| ENST00000681632.1:n.1236C>T (ERCC6) | ||
| ENST00000681659.1:c.1158C>T (ERCC6) | ENSP00000505631.1:p.Asp386= | |
| ENST00000355832.9:c.1158C>T (ERCC6) | ENSP00000348089.5:p.Asp386= | |
| ENST00000447839.6:c.1158C>T | ENSP00000387966.2:p.Asp386= | |
| ENST00000515869.1:c.1158C>T | ENSP00000423550.1:p.Asp386= | |
| NM_000124.3:c.1158C>T (ERCC6) | NP_000115.1:p.Asp386= | |
| NM_001277058.1:c.1158C>T | NP_001263987.1:p.Asp386= | |
| NM_001277059.1:c.1158C>T | NP_001263988.1:p.Asp386= | |
| NM_170753.3:c.-247C>T (PGBD3) | NP_736609.2:n.-247C>T | |
| NM_001346440.1:c.1158C>T (ERCC6) | NP_001333369.1:p.Asp386= | |
| NM_000124.4:c.1158C>T (ERCC6) MANE Select | NP_000115.1:p.Asp386= | |
| NM_001277058.2:c.1158C>T (ERCC6) MANE Plus Clinical | NP_001263987.1:p.Asp386= | |
| NM_001277059.2:c.1158C>T (ERCC6) | NP_001263988.1:p.Asp386= | |
| NM_001346440.2:c.1158C>T (ERCC6) | NP_001333369.1:p.Asp386= |