Linked Data
ClinVar Variation Id:
2171713
ClinVar RCV Id:
RCV003095832
dbSNP Id:
rs370925858
ExAC:
10:50732298 G / A
gnomAD v2:
10-50732298-G-A
gnomAD v3:
10-49524252-G-A
gnomAD v4:
10-49524252-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.49524252G>A , CM000672.2:g.49524252G>A | GRCh38 |
| NC_000010.10:g.50732298G>A , CM000672.1:g.50732298G>A | GRCh37 |
| NC_000010.9:g.50402304G>A | NCBI36 |
| NG_009442.1:g.19850C>T , LRG_465:g.19850C>T | |
| NG_033155.1:g.5030C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355832.10:c.1178C>T (ERCC6) MANE Select | ENSP00000348089.5:p.Ala393Val | |
| ENST00000447839.7:c.1178C>T (ERCC6) MANE Plus Clinical | ENSP00000387966.2:p.Ala393Val | |
| ENST00000679596.1:c.*807C>T (ERCC6) | ENSP00000504862.1:n.*807C>T | |
| ENST00000679811.1:n.1261C>T (ERCC6) | ||
| ENST00000680107.1:c.652+4165C>T (ERCC6) | ENSP00000505909.1:n.652+4165C>T | |
| ENST00000680233.1:n.1271C>T (ERCC6) | ||
| ENST00000681632.1:n.1256C>T (ERCC6) | ||
| ENST00000681659.1:c.1178C>T (ERCC6) | ENSP00000505631.1:p.Ala393Val | |
| ENST00000355832.9:c.1178C>T (ERCC6) | ENSP00000348089.5:p.Ala393Val | |
| ENST00000447839.6:c.1178C>T | ENSP00000387966.2:p.Ala393Val | |
| ENST00000515869.1:c.1178C>T | ENSP00000423550.1:p.Ala393Val | |
| NM_000124.3:c.1178C>T (ERCC6) | NP_000115.1:p.Ala393Val | |
| NM_001277058.1:c.1178C>T | NP_001263987.1:p.Ala393Val | |
| NM_001277059.1:c.1178C>T | NP_001263988.1:p.Ala393Val | |
| NM_170753.3:c.-227C>T (PGBD3) | NP_736609.2:n.-227C>T | |
| NM_001346440.1:c.1178C>T (ERCC6) | NP_001333369.1:p.Ala393Val | |
| NM_000124.4:c.1178C>T (ERCC6) MANE Select | NP_000115.1:p.Ala393Val | |
| NM_001277058.2:c.1178C>T (ERCC6) MANE Plus Clinical | NP_001263987.1:p.Ala393Val | |
| NM_001277059.2:c.1178C>T (ERCC6) | NP_001263988.1:p.Ala393Val | |
| NM_001346440.2:c.1178C>T (ERCC6) | NP_001333369.1:p.Ala393Val |