Linked Data
ClinVar Variation Id:
1703
dbSNP Id:
rs121917902
gnomAD v4:
10-49524073-G-A
PubMed:
PMID:10196384
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.49524073G>A , CM000672.2:g.49524073G>A | GRCh38 |
| NC_000010.10:g.50732119G>A , CM000672.1:g.50732119G>A | GRCh37 |
| NC_000010.9:g.50402125G>A | NCBI36 |
| NG_009442.1:g.20029C>T , LRG_465:g.20029C>T | |
| NG_033155.1:g.5209C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355832.10:c.1357C>T (ERCC6) MANE Select | ENSP00000348089.5:p.Arg453Ter | |
| ENST00000447839.7:c.1357C>T (ERCC6) MANE Plus Clinical | ENSP00000387966.2:p.Arg453Ter | |
| ENST00000679596.1:c.*986C>T (ERCC6) | ENSP00000504862.1:n.*986C>T | |
| ENST00000679811.1:n.1440C>T (ERCC6) | ||
| ENST00000680107.1:c.652+4344C>T (ERCC6) | ENSP00000505909.1:n.652+4344C>T | |
| ENST00000680233.1:n.1450C>T (ERCC6) | ||
| ENST00000681632.1:n.1435C>T (ERCC6) | ||
| ENST00000681659.1:c.1357C>T (ERCC6) | ENSP00000505631.1:p.Arg453Ter | |
| ENST00000355832.9:c.1357C>T (ERCC6) | ENSP00000348089.5:p.Arg453Ter | |
| ENST00000374127.3:c.-48C>T | ENSP00000363242.3:n.-48C>T | |
| ENST00000447839.6:c.1357C>T | ENSP00000387966.2:p.Arg453Ter | |
| ENST00000515869.1:c.1357C>T | ENSP00000423550.1:p.Arg453Ter | |
| NM_000124.3:c.1357C>T (ERCC6) | NP_000115.1:p.Arg453Ter | |
| NM_001277058.1:c.1357C>T | NP_001263987.1:p.Arg453Ter | |
| NM_001277059.1:c.1357C>T | NP_001263988.1:p.Arg453Ter | |
| NM_170753.3:c.-48C>T (PGBD3) | NP_736609.2:n.-48C>T | |
| NM_001346440.1:c.1357C>T (ERCC6) | NP_001333369.1:p.Arg453Ter | |
| NM_000124.4:c.1357C>T (ERCC6) MANE Select | NP_000115.1:p.Arg453Ter | |
| NM_001277058.2:c.1357C>T (ERCC6) MANE Plus Clinical | NP_001263987.1:p.Arg453Ter | |
| NM_001277059.2:c.1357C>T (ERCC6) | NP_001263988.1:p.Arg453Ter | |
| NM_001346440.2:c.1357C>T (ERCC6) | NP_001333369.1:p.Arg453Ter |