Linked Data
ClinVar Variation Id:
2007976
ClinVar RCV Id:
RCV002833518
MyVariant Identifiers:
chr3:g.48508117C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.48466718C>T , CM000665.2:g.48466718C>T | GRCh38 |
| NC_000003.11:g.48508117C>T , CM000665.1:g.48508117C>T | GRCh37 |
| NC_000003.10:g.48483121C>T | NCBI36 |
| NG_009820.1:g.5889C>T | |
| NG_033100.1:g.39143G>A | |
| NG_041782.1:g.25009C>T | |
| NG_009820.2:g.5889C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320211.10:c.*1164C>T (ATRIP) MANE Select | ENSP00000323099.3:n.*1164C>T | |
| ENST00000492235.2:c.-295-60C>T (TREX1) | ENSP00000494511.1:n.-295-60C>T | |
| ENST00000625293.3:c.63C>T (TREX1) MANE Select | ENSP00000486676.2:p.Ala21= | |
| ENST00000634384.2:c.2658C>T (ATRIP) | ||
| ENST00000635452.2:c.-333-22C>T (TREX1) | ENSP00000492023.2:n.-333-22C>T | |
| ENST00000296443.11:c.63C>T | ENSP00000296443.11:p.Ala21= | |
| ENST00000433541.1:c.-333-22C>T (TREX1) | ENSP00000412404.1:n.-333-22C>T | |
| ENST00000444177.1:c.33C>T (TREX1) | ENSP00000415972.1:p.Ala11= | |
| ENST00000456089.1:c.-8-347C>T (TREX1) | ENSP00000411331.1:n.-8-347C>T | |
| ENST00000492235.1:n.41-60C>T (TREX1) | ||
| ENST00000625293.1:c.228C>T (TREX1) | ENSP00000486676.1:p.Ala76= | |
| ENST00000629913.1:c.63C>T (TREX1) | ENSP00000486444.1:p.Ala21= | |
| ENST00000634384.1:c.*2883C>T | ENSP00000489041.1:n.*2883C>T | |
| ENST00000635452.1:n.1270C>T | ||
| ENST00000635464.1:c.3016C>T | ENSP00000489199.1:n.3016C>T | |
| NM_007248.3:c.33C>T (TREX1) | NP_009179.2:p.Ala11= | |
| NM_016381.5:c.228C>T (TREX1) | NP_057465.1:p.Ala76= | |
| NM_033629.4:c.63C>T (TREX1) | NP_338599.1:p.Ala21= | |
| NM_007248.4:c.33C>T (TREX1) | NP_009179.2:p.Ala11= | |
| NM_033629.5:c.63C>T (TREX1) | NP_338599.1:p.Ala21= | |
| NR_153405.1:n.3372C>T | ||
| NM_033629.6:c.63C>T (TREX1) MANE Select | NP_338599.1:p.Ala21= | |
| NM_130384.3:c.*1164C>T (ATRIP) MANE Select | NP_569055.1:n.*1164C>T | |
| NM_001271023.2:c.*1164C>T (ATRIP) | NP_001257952.1:n.*1164C>T | |
| NM_007248.5:c.33C>T (TREX1) | NP_009179.2:p.Ala11= | |
| NM_032166.4:c.*1164C>T (ATRIP) | NP_115542.2:n.*1164C>T | |
| NM_001271022.2:c.*1164C>T (ATRIP) | NP_001257951.1:n.*1164C>T |