Linked Data
ClinVar Variation Id:
371025
dbSNP Id:
rs143367518
ExAC:
5:60214191 G / C
gnomAD v2:
5-60214191-G-C
gnomAD v3:
5-60918364-G-C
gnomAD v4:
5-60918364-G-C
PubMed:
PMID:19894250
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.60918364G>C , CM000667.2:g.60918364G>C | GRCh38 |
| NC_000005.9:g.60214191G>C , CM000667.1:g.60214191G>C | GRCh37 |
| NC_000005.8:g.60249948G>C | NCBI36 |
| NG_009289.1:g.31715C>G , LRG_466:g.31715C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000439176.6:c.300C>G (ERCC8) | ENSP00000408344.2:p.Tyr100Ter | |
| ENST00000647431.2:c.300C>G (ERCC8) | ENSP00000494726.2:p.Tyr100Ter | |
| ENST00000647486.2:c.300C>G (ERCC8) | ENSP00000494466.2:p.Tyr100Ter | |
| ENST00000675042.2:c.126C>G (ERCC8) | ENSP00000502082.2:p.Tyr42Ter | |
| ENST00000675452.2:c.*265C>G (ERCC8) | ENSP00000506954.1:n.*265C>G | |
| ENST00000682217.1:c.300C>G (ERCC8) | ENSP00000507570.1:p.Tyr100Ter | |
| ENST00000682246.1:n.356C>G (ERCC8) | ||
| ENST00000682375.1:c.126C>G (ERCC8) | ENSP00000507551.1:p.Tyr42Ter | |
| ENST00000682380.1:n.433C>G (ERCC8) | ||
| ENST00000682418.1:n.356C>G (ERCC8) | ||
| ENST00000682750.1:n.244C>G (ERCC8) | ||
| ENST00000683052.1:c.102C>G (ERCC8) | ENSP00000507072.1:p.Tyr34Ter | |
| ENST00000683199.1:n.322C>G (ERCC8) | ||
| ENST00000683460.1:c.300C>G (ERCC8) | ENSP00000507820.1:p.Tyr100Ter | |
| ENST00000684394.1:n.355C>G (ERCC8) | ||
| ENST00000684453.1:n.350C>G (ERCC8) | ||
| ENST00000684621.1:n.356C>G (ERCC8) | ||
| ENST00000265038.10:c.300C>G (ERCC8) | ENSP00000265038.6:p.Tyr100Ter | |
| ENST00000497892.6:c.*98C>G (ERCC8) | ENSP00000501805.1:n.*98C>G | |
| ENST00000643034.1:c.*192C>G (ERCC8) | ENSP00000496080.1:n.*192C>G | |
| ENST00000643708.1:c.300C>G (ERCC8) | ENSP00000494199.1:p.Tyr100Ter | |
| ENST00000647431.1:c.251C>G (ERCC8) | ||
| ENST00000647486.1:c.251C>G (ERCC8) | ||
| ENST00000675042.1:c.126C>G (ERCC8) | ENSP00000502082.1:p.Tyr42Ter | |
| ENST00000675229.1:c.300C>G (ERCC8) | ENSP00000502154.1:p.Tyr100Ter | |
| ENST00000675378.1:c.300C>G (ERCC8) | ENSP00000502535.1:p.Tyr100Ter | |
| ENST00000675452.1:n.239C>G (ERCC8) | ||
| ENST00000675920.1:n.908C>G (ERCC8) | ||
| ENST00000676185.1:c.300C>G (ERCC8) MANE Select | ENSP00000501614.1:p.Tyr100Ter | |
| ENST00000265038.9:c.300C>G (ERCC8) | ENSP00000265038.5:p.Tyr100Ter | |
| ENST00000381118.7:c.*344C>G (ERCC8) | ENSP00000370510.3:n.*344C>G | |
| ENST00000439176.5:c.126C>G (ERCC8) | ENSP00000408344.1:p.Tyr42Ter | |
| ENST00000477893.1:n.351C>G (ERCC8) | ||
| ENST00000484330.5:n.127C>G (ERCC8) | ||
| ENST00000495985.5:n.73C>G (ERCC8) | ||
| ENST00000497892.5:n.343C>G (ERCC8) | ||
| NM_000082.3:c.300C>G , LRG_466t1:c.300C>G (ERCC8) | NP_000073.1:p.Tyr100Ter | |
| NM_001007233.2:c.126C>G (ERCC8) | NP_001007234.1:p.Tyr42Ter | |
| NM_001007234.2:c.300C>G (ERCC8) | NP_001007235.1:p.Tyr100Ter | |
| NM_001290285.1:c.-78C>G (ERCC8) | NP_001277214.1:n.-78C>G | |
| XR_948361.1:n.2545G>C (ERCC8-AS1) | ||
| XR_948362.1:n.2731G>C (ERCC8-AS1) | ||
| XR_001742670.1:n.70G>C (ERCC8-AS1) | ||
| NM_001007234.3:c.300C>G (ERCC8) | NP_001007235.1:p.Tyr100Ter | |
| NM_000082.4:c.300C>G (ERCC8) MANE Select | NP_000073.1:p.Tyr100Ter | |
| NM_001007233.3:c.126C>G (ERCC8) | NP_001007234.1:p.Tyr42Ter | |
| NM_001290285.2:c.-78C>G (ERCC8) | NP_001277214.1:n.-78C>G |