Linked Data
ClinVar Variation Id:
126385
ClinVar RCV Id:
RCV000114324
dbSNP Id:
rs79993407
gnomAD v4:
3-48467020-T-C
PubMed:
PMID:20301648
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.48467020T>C , CM000665.2:g.48467020T>C | GRCh38 |
| NC_000003.11:g.48508419T>C , CM000665.1:g.48508419T>C | GRCh37 |
| NC_000003.10:g.48483423T>C | NCBI36 |
| NG_009820.1:g.6191T>C | |
| NG_033100.1:g.38841A>G | |
| NG_041782.1:g.25311T>C | |
| NG_009820.2:g.6191T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000320211.10:c.*1466T>C (ATRIP) MANE Select | ENSP00000323099.3:n.*1466T>C | |
| ENST00000492235.2:c.-53T>C (TREX1) | ENSP00000494511.1:n.-53T>C | |
| ENST00000625293.3:c.365T>C (TREX1) MANE Select | ENSP00000486676.2:p.Val122Ala | |
| ENST00000634384.2:c.2960T>C (ATRIP) | ||
| ENST00000635452.2:c.-53T>C (TREX1) | ENSP00000492023.2:n.-53T>C | |
| ENST00000296443.11:c.365T>C | ENSP00000296443.11:p.Val122Ala | |
| ENST00000433541.1:c.-53T>C (TREX1) | ENSP00000412404.1:n.-53T>C | |
| ENST00000444177.1:c.335T>C (TREX1) | ENSP00000415972.1:p.Val112Ala | |
| ENST00000456089.1:c.-8-45T>C (TREX1) | ENSP00000411331.1:n.-8-45T>C | |
| ENST00000492235.1:n.283T>C (TREX1) | ||
| ENST00000625293.1:c.530T>C (TREX1) | ENSP00000486676.1:p.Val177Ala | |
| ENST00000629913.1:c.365T>C (TREX1) | ENSP00000486444.1:p.Val122Ala | |
| ENST00000634384.1:c.*3185T>C | ENSP00000489041.1:n.*3185T>C | |
| ENST00000635452.1:n.1572T>C | ||
| ENST00000635464.1:c.3318T>C | ENSP00000489199.1:n.3318T>C | |
| NM_007248.3:c.335T>C (TREX1) | NP_009179.2:p.Val112Ala | |
| NM_016381.5:c.530T>C (TREX1) | NP_057465.1:p.Val177Ala | |
| NM_033629.4:c.365T>C (TREX1) | NP_338599.1:p.Val122Ala | |
| NM_007248.4:c.335T>C (TREX1) | NP_009179.2:p.Val112Ala | |
| NM_033629.5:c.365T>C (TREX1) | NP_338599.1:p.Val122Ala | |
| NR_153405.1:n.3674T>C | ||
| NM_033629.6:c.365T>C (TREX1) MANE Select | NP_338599.1:p.Val122Ala | |
| NM_130384.3:c.*1466T>C (ATRIP) MANE Select | NP_569055.1:n.*1466T>C | |
| NM_001271023.2:c.*1466T>C (ATRIP) | NP_001257952.1:n.*1466T>C | |
| NM_007248.5:c.335T>C (TREX1) | NP_009179.2:p.Val112Ala | |
| NM_032166.4:c.*1466T>C (ATRIP) | NP_115542.2:n.*1466T>C | |
| NM_001271022.2:c.*1466T>C (ATRIP) | NP_001257951.1:n.*1466T>C |