Linked Data
ClinVar Variation Id:
2943586
ClinVar RCV Id:
RCV003803144
dbSNP Id:
rs1297546144
gnomAD v4:
3-48467310-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.48467310G>T , CM000665.2:g.48467310G>T | GRCh38 |
| NC_000003.11:g.48508709G>T , CM000665.1:g.48508709G>T | GRCh37 |
| NC_000003.10:g.48483713G>T | NCBI36 |
| NG_009820.1:g.6481G>T | |
| NG_033100.1:g.38551C>A | |
| NG_041782.1:g.25601G>T | |
| NG_009820.2:g.6481G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320211.10:c.*1756G>T (ATRIP) MANE Select | ENSP00000323099.3:n.*1756G>T | |
| ENST00000492235.2:c.238G>T (TREX1) | ENSP00000494511.1:p.Val80Leu | |
| ENST00000625293.3:c.655G>T (TREX1) MANE Select | ENSP00000486676.2:p.Val219Leu | |
| ENST00000634384.2:c.3250G>T (ATRIP) | ||
| ENST00000635452.2:c.238G>T (TREX1) | ENSP00000492023.2:p.Val80Leu | |
| ENST00000296443.11:c.655G>T | ENSP00000296443.11:p.Val219Leu | |
| ENST00000433541.1:c.238G>T (TREX1) | ENSP00000412404.1:p.Val80Leu | |
| ENST00000444177.1:c.625G>T (TREX1) | ENSP00000415972.1:p.Val209Leu | |
| ENST00000456089.1:c.238G>T (TREX1) | ENSP00000411331.1:p.Val80Leu | |
| ENST00000492235.1:n.573G>T (TREX1) | ||
| ENST00000625293.1:c.820G>T (TREX1) | ENSP00000486676.1:p.Val274Leu | |
| ENST00000629913.1:c.655G>T (TREX1) | ENSP00000486444.1:p.Val219Leu | |
| ENST00000634384.1:c.*3475G>T | ENSP00000489041.1:n.*3475G>T | |
| ENST00000635452.1:n.1862G>T | ||
| ENST00000635464.1:c.3608G>T | ENSP00000489199.1:n.3608G>T | |
| NM_007248.3:c.625G>T (TREX1) | NP_009179.2:p.Val209Leu | |
| NM_016381.5:c.820G>T (TREX1) | NP_057465.1:p.Val274Leu | |
| NM_033629.4:c.655G>T (TREX1) | NP_338599.1:p.Val219Leu | |
| NM_007248.4:c.625G>T (TREX1) | NP_009179.2:p.Val209Leu | |
| NM_033629.5:c.655G>T (TREX1) | NP_338599.1:p.Val219Leu | |
| NR_153405.1:n.3964G>T | ||
| NM_033629.6:c.655G>T (TREX1) MANE Select | NP_338599.1:p.Val219Leu | |
| NM_130384.3:c.*1756G>T (ATRIP) MANE Select | NP_569055.1:n.*1756G>T | |
| NM_001271023.2:c.*1756G>T (ATRIP) | NP_001257952.1:n.*1756G>T | |
| NM_007248.5:c.625G>T (TREX1) | NP_009179.2:p.Val209Leu | |
| NM_032166.4:c.*1756G>T (ATRIP) | NP_115542.2:n.*1756G>T | |
| NM_001271022.2:c.*1756G>T (ATRIP) | NP_001257951.1:n.*1756G>T |