Linked Data
ClinVar Variation Id:
1052944
ClinVar RCV Id:
RCV001361220
dbSNP Id:
rs746384382
ExAC:
3:48508457 C / G
gnomAD v2:
3-48508457-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.48467058C>G , CM000665.2:g.48467058C>G | GRCh38 |
| NC_000003.11:g.48508457C>G , CM000665.1:g.48508457C>G | GRCh37 |
| NC_000003.10:g.48483461C>G | NCBI36 |
| NG_009820.1:g.6229C>G | |
| NG_033100.1:g.38803G>C | |
| NG_041782.1:g.25349C>G | |
| NG_009820.2:g.6229C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320211.10:c.*1504C>G (ATRIP) MANE Select | ENSP00000323099.3:n.*1504C>G | |
| ENST00000492235.2:c.-15C>G (TREX1) | ENSP00000494511.1:n.-15C>G | |
| ENST00000625293.3:c.403C>G (TREX1) MANE Select | ENSP00000486676.2:p.Gln135Glu | |
| ENST00000634384.2:c.2998C>G (ATRIP) | ||
| ENST00000635452.2:c.-15C>G (TREX1) | ENSP00000492023.2:n.-15C>G | |
| ENST00000296443.11:c.403C>G | ENSP00000296443.11:p.Gln135Glu | |
| ENST00000433541.1:c.-15C>G (TREX1) | ENSP00000412404.1:n.-15C>G | |
| ENST00000444177.1:c.373C>G (TREX1) | ENSP00000415972.1:p.Gln125Glu | |
| ENST00000456089.1:c.-8-7C>G (TREX1) | ENSP00000411331.1:n.-8-7C>G | |
| ENST00000492235.1:n.321C>G (TREX1) | ||
| ENST00000625293.1:c.568C>G (TREX1) | ENSP00000486676.1:p.Gln190Glu | |
| ENST00000629913.1:c.403C>G (TREX1) | ENSP00000486444.1:p.Gln135Glu | |
| ENST00000634384.1:c.*3223C>G | ENSP00000489041.1:n.*3223C>G | |
| ENST00000635452.1:n.1610C>G | ||
| ENST00000635464.1:c.3356C>G | ENSP00000489199.1:n.3356C>G | |
| NM_007248.3:c.373C>G (TREX1) | NP_009179.2:p.Gln125Glu | |
| NM_016381.5:c.568C>G (TREX1) | NP_057465.1:p.Gln190Glu | |
| NM_033629.4:c.403C>G (TREX1) | NP_338599.1:p.Gln135Glu | |
| NM_007248.4:c.373C>G (TREX1) | NP_009179.2:p.Gln125Glu | |
| NM_033629.5:c.403C>G (TREX1) | NP_338599.1:p.Gln135Glu | |
| NR_153405.1:n.3712C>G | ||
| NM_033629.6:c.403C>G (TREX1) MANE Select | NP_338599.1:p.Gln135Glu | |
| NM_130384.3:c.*1504C>G (ATRIP) MANE Select | NP_569055.1:n.*1504C>G | |
| NM_001271023.2:c.*1504C>G (ATRIP) | NP_001257952.1:n.*1504C>G | |
| NM_007248.5:c.373C>G (TREX1) | NP_009179.2:p.Gln125Glu | |
| NM_032166.4:c.*1504C>G (ATRIP) | NP_115542.2:n.*1504C>G | |
| NM_001271022.2:c.*1504C>G (ATRIP) | NP_001257951.1:n.*1504C>G |