Linked Data
ClinVar Variation Id:
235656
ClinVar RCV Id:
RCV000224613
dbSNP Id:
rs878853087
gnomAD v2:
3-48508454-C-T
gnomAD v3:
3-48467055-C-T
gnomAD v4:
3-48467055-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.48467055C>T , CM000665.2:g.48467055C>T | GRCh38 |
| NC_000003.11:g.48508454C>T , CM000665.1:g.48508454C>T | GRCh37 |
| NC_000003.10:g.48483458C>T | NCBI36 |
| NG_009820.1:g.6226C>T | |
| NG_033100.1:g.38806G>A | |
| NG_041782.1:g.25346C>T | |
| NG_009820.2:g.6226C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320211.10:c.*1501C>T (ATRIP) MANE Select | ENSP00000323099.3:n.*1501C>T | |
| ENST00000492235.2:c.-18C>T (TREX1) | ENSP00000494511.1:n.-18C>T | |
| ENST00000625293.3:c.400C>T (TREX1) MANE Select | ENSP00000486676.2:p.Leu134Phe | |
| ENST00000634384.2:c.2995C>T (ATRIP) | ||
| ENST00000635452.2:c.-18C>T (TREX1) | ENSP00000492023.2:n.-18C>T | |
| ENST00000296443.11:c.400C>T | ENSP00000296443.11:p.Leu134Phe | |
| ENST00000433541.1:c.-18C>T (TREX1) | ENSP00000412404.1:n.-18C>T | |
| ENST00000444177.1:c.370C>T (TREX1) | ENSP00000415972.1:p.Leu124Phe | |
| ENST00000456089.1:c.-8-10C>T (TREX1) | ENSP00000411331.1:n.-8-10C>T | |
| ENST00000492235.1:n.318C>T (TREX1) | ||
| ENST00000625293.1:c.565C>T (TREX1) | ENSP00000486676.1:p.Leu189Phe | |
| ENST00000629913.1:c.400C>T (TREX1) | ENSP00000486444.1:p.Leu134Phe | |
| ENST00000634384.1:c.*3220C>T | ENSP00000489041.1:n.*3220C>T | |
| ENST00000635452.1:n.1607C>T | ||
| ENST00000635464.1:c.3353C>T | ENSP00000489199.1:n.3353C>T | |
| NM_007248.3:c.370C>T (TREX1) | NP_009179.2:p.Leu124Phe | |
| NM_016381.5:c.565C>T (TREX1) | NP_057465.1:p.Leu189Phe | |
| NM_033629.4:c.400C>T (TREX1) | NP_338599.1:p.Leu134Phe | |
| NM_007248.4:c.370C>T (TREX1) | NP_009179.2:p.Leu124Phe | |
| NM_033629.5:c.400C>T (TREX1) | NP_338599.1:p.Leu134Phe | |
| NR_153405.1:n.3709C>T | ||
| NM_033629.6:c.400C>T (TREX1) MANE Select | NP_338599.1:p.Leu134Phe | |
| NM_130384.3:c.*1501C>T (ATRIP) MANE Select | NP_569055.1:n.*1501C>T | |
| NM_001271023.2:c.*1501C>T (ATRIP) | NP_001257952.1:n.*1501C>T | |
| NM_007248.5:c.370C>T (TREX1) | NP_009179.2:p.Leu124Phe | |
| NM_032166.4:c.*1501C>T (ATRIP) | NP_115542.2:n.*1501C>T | |
| NM_001271022.2:c.*1501C>T (ATRIP) | NP_001257951.1:n.*1501C>T |