Linked Data
ClinVar Variation Id:
570429
dbSNP Id:
rs146524913
ExAC:
3:48508677 G / C
gnomAD v2:
3-48508677-G-C
gnomAD v3:
3-48467278-G-C
gnomAD v4:
3-48467278-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.48467278G>C , CM000665.2:g.48467278G>C | GRCh38 |
| NC_000003.11:g.48508677G>C , CM000665.1:g.48508677G>C | GRCh37 |
| NC_000003.10:g.48483681G>C | NCBI36 |
| NG_009820.1:g.6449G>C | |
| NG_033100.1:g.38583C>G | |
| NG_041782.1:g.25569G>C | |
| NG_009820.2:g.6449G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320211.10:c.*1724G>C (ATRIP) MANE Select | ENSP00000323099.3:n.*1724G>C | |
| ENST00000492235.2:c.206G>C (TREX1) | ENSP00000494511.1:p.Cys69Ser | |
| ENST00000625293.3:c.623G>C (TREX1) MANE Select | ENSP00000486676.2:p.Cys208Ser | |
| ENST00000634384.2:c.3218G>C (ATRIP) | ||
| ENST00000635452.2:c.206G>C (TREX1) | ENSP00000492023.2:p.Cys69Ser | |
| ENST00000296443.11:c.623G>C | ENSP00000296443.11:p.Cys208Ser | |
| ENST00000433541.1:c.206G>C (TREX1) | ENSP00000412404.1:p.Cys69Ser | |
| ENST00000444177.1:c.593G>C (TREX1) | ENSP00000415972.1:p.Cys198Ser | |
| ENST00000456089.1:c.206G>C (TREX1) | ENSP00000411331.1:p.Cys69Ser | |
| ENST00000492235.1:n.541G>C (TREX1) | ||
| ENST00000625293.1:c.788G>C (TREX1) | ENSP00000486676.1:p.Cys263Ser | |
| ENST00000629913.1:c.623G>C (TREX1) | ENSP00000486444.1:p.Cys208Ser | |
| ENST00000634384.1:c.*3443G>C | ENSP00000489041.1:n.*3443G>C | |
| ENST00000635452.1:n.1830G>C | ||
| ENST00000635464.1:c.3576G>C | ENSP00000489199.1:n.3576G>C | |
| NM_007248.3:c.593G>C (TREX1) | NP_009179.2:p.Cys198Ser | |
| NM_016381.5:c.788G>C (TREX1) | NP_057465.1:p.Cys263Ser | |
| NM_033629.4:c.623G>C (TREX1) | NP_338599.1:p.Cys208Ser | |
| NM_007248.4:c.593G>C (TREX1) | NP_009179.2:p.Cys198Ser | |
| NM_033629.5:c.623G>C (TREX1) | NP_338599.1:p.Cys208Ser | |
| NR_153405.1:n.3932G>C | ||
| NM_033629.6:c.623G>C (TREX1) MANE Select | NP_338599.1:p.Cys208Ser | |
| NM_130384.3:c.*1724G>C (ATRIP) MANE Select | NP_569055.1:n.*1724G>C | |
| NM_001271023.2:c.*1724G>C (ATRIP) | NP_001257952.1:n.*1724G>C | |
| NM_007248.5:c.593G>C (TREX1) | NP_009179.2:p.Cys198Ser | |
| NM_032166.4:c.*1724G>C (ATRIP) | NP_115542.2:n.*1724G>C | |
| NM_001271022.2:c.*1724G>C (ATRIP) | NP_001257951.1:n.*1724G>C |