Linked Data
ClinVar Variation Id:
300085
dbSNP Id:
rs148295935
ExAC:
10:50732317 C / T
gnomAD v2:
10-50732317-C-T
gnomAD v3:
10-49524271-C-T
gnomAD v4:
10-49524271-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.49524271C>T , CM000672.2:g.49524271C>T | GRCh38 |
| NC_000010.10:g.50732317C>T , CM000672.1:g.50732317C>T | GRCh37 |
| NC_000010.9:g.50402323C>T | NCBI36 |
| NG_009442.1:g.19831G>A , LRG_465:g.19831G>A | |
| NG_033155.1:g.5011G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355832.10:c.1159G>A (ERCC6) MANE Select | ENSP00000348089.5:p.Glu387Lys | |
| ENST00000447839.7:c.1159G>A (ERCC6) MANE Plus Clinical | ENSP00000387966.2:p.Glu387Lys | |
| ENST00000679596.1:c.*788G>A (ERCC6) | ENSP00000504862.1:n.*788G>A | |
| ENST00000679811.1:n.1242G>A (ERCC6) | ||
| ENST00000680107.1:c.652+4146G>A (ERCC6) | ENSP00000505909.1:n.652+4146G>A | |
| ENST00000680233.1:n.1252G>A (ERCC6) | ||
| ENST00000681632.1:n.1237G>A (ERCC6) | ||
| ENST00000681659.1:c.1159G>A (ERCC6) | ENSP00000505631.1:p.Glu387Lys | |
| ENST00000355832.9:c.1159G>A (ERCC6) | ENSP00000348089.5:p.Glu387Lys | |
| ENST00000447839.6:c.1159G>A | ENSP00000387966.2:p.Glu387Lys | |
| ENST00000515869.1:c.1159G>A | ENSP00000423550.1:p.Glu387Lys | |
| NM_000124.3:c.1159G>A (ERCC6) | NP_000115.1:p.Glu387Lys | |
| NM_001277058.1:c.1159G>A | NP_001263987.1:p.Glu387Lys | |
| NM_001277059.1:c.1159G>A | NP_001263988.1:p.Glu387Lys | |
| NM_170753.3:c.-246G>A (PGBD3) | NP_736609.2:n.-246G>A | |
| NM_001346440.1:c.1159G>A (ERCC6) | NP_001333369.1:p.Glu387Lys | |
| NM_000124.4:c.1159G>A (ERCC6) MANE Select | NP_000115.1:p.Glu387Lys | |
| NM_001277058.2:c.1159G>A (ERCC6) MANE Plus Clinical | NP_001263987.1:p.Glu387Lys | |
| NM_001277059.2:c.1159G>A (ERCC6) | NP_001263988.1:p.Glu387Lys | |
| NM_001346440.2:c.1159G>A (ERCC6) | NP_001333369.1:p.Glu387Lys |