Linked Data
ClinVar Variation Id:
2107738
ClinVar RCV Id:
RCV003017496
dbSNP Id:
rs1431098691
gnomAD v2:
3-48508720-C-A
gnomAD v4:
3-48467321-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.48467321C>A , CM000665.2:g.48467321C>A | GRCh38 |
| NC_000003.11:g.48508720C>A , CM000665.1:g.48508720C>A | GRCh37 |
| NC_000003.10:g.48483724C>A | NCBI36 |
| NG_009820.1:g.6492C>A | |
| NG_033100.1:g.38540G>T | |
| NG_041782.1:g.25612C>A | |
| NG_009820.2:g.6492C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320211.10:c.*1767C>A (ATRIP) MANE Select | ENSP00000323099.3:n.*1767C>A | |
| ENST00000492235.2:c.249C>A (TREX1) | ENSP00000494511.1:p.His83Gln | |
| ENST00000625293.3:c.666C>A (TREX1) MANE Select | ENSP00000486676.2:p.His222Gln | |
| ENST00000634384.2:c.3261C>A (ATRIP) | ||
| ENST00000635452.2:c.249C>A (TREX1) | ENSP00000492023.2:p.His83Gln | |
| ENST00000296443.11:c.666C>A | ENSP00000296443.11:p.His222Gln | |
| ENST00000433541.1:c.249C>A (TREX1) | ENSP00000412404.1:p.His83Gln | |
| ENST00000444177.1:c.636C>A (TREX1) | ENSP00000415972.1:p.His212Gln | |
| ENST00000456089.1:c.249C>A (TREX1) | ENSP00000411331.1:p.His83Gln | |
| ENST00000492235.1:n.584C>A (TREX1) | ||
| ENST00000625293.1:c.831C>A (TREX1) | ENSP00000486676.1:p.His277Gln | |
| ENST00000629913.1:c.666C>A (TREX1) | ENSP00000486444.1:p.His222Gln | |
| ENST00000634384.1:c.*3486C>A | ENSP00000489041.1:n.*3486C>A | |
| ENST00000635452.1:n.1873C>A | ||
| ENST00000635464.1:c.3619C>A | ENSP00000489199.1:n.3619C>A | |
| NM_007248.3:c.636C>A (TREX1) | NP_009179.2:p.His212Gln | |
| NM_016381.5:c.831C>A (TREX1) | NP_057465.1:p.His277Gln | |
| NM_033629.4:c.666C>A (TREX1) | NP_338599.1:p.His222Gln | |
| NM_007248.4:c.636C>A (TREX1) | NP_009179.2:p.His212Gln | |
| NM_033629.5:c.666C>A (TREX1) | NP_338599.1:p.His222Gln | |
| NR_153405.1:n.3975C>A | ||
| NM_033629.6:c.666C>A (TREX1) MANE Select | NP_338599.1:p.His222Gln | |
| NM_130384.3:c.*1767C>A (ATRIP) MANE Select | NP_569055.1:n.*1767C>A | |
| NM_001271023.2:c.*1767C>A (ATRIP) | NP_001257952.1:n.*1767C>A | |
| NM_007248.5:c.636C>A (TREX1) | NP_009179.2:p.His212Gln | |
| NM_032166.4:c.*1767C>A (ATRIP) | NP_115542.2:n.*1767C>A | |
| NM_001271022.2:c.*1767C>A (ATRIP) | NP_001257951.1:n.*1767C>A |