Linked Data
dbSNP Id:
rs750630658
ExAC:
3:48509041 C / T
gnomAD v2:
3-48509041-C-T
gnomAD v4:
3-48467642-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.48467642C>T , CM000665.2:g.48467642C>T | GRCh38 |
| NC_000003.11:g.48509041C>T , CM000665.1:g.48509041C>T | GRCh37 |
| NC_000003.10:g.48484045C>T | NCBI36 |
| NG_009820.1:g.6813C>T | |
| NG_033100.1:g.38219G>A | |
| NG_041782.1:g.25933C>T | |
| NG_009820.2:g.6813C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320211.10:c.*2088C>T (ATRIP) MANE Select | ENSP00000323099.3:n.*2088C>T | |
| ENST00000492235.2:c.*42C>T (TREX1) | ENSP00000494511.1:n.*42C>T | |
| ENST00000625293.3:c.*42C>T (TREX1) MANE Select | ENSP00000486676.2:n.*42C>T | |
| ENST00000634384.2:c.3582C>T (ATRIP) | ||
| ENST00000635452.2:c.*42C>T (TREX1) | ENSP00000492023.2:n.*42C>T | |
| ENST00000296443.11:c.*42C>T | ENSP00000296443.11:n.*42C>T | |
| ENST00000433541.1:c.*42C>T (TREX1) | ENSP00000412404.1:n.*42C>T | |
| ENST00000444177.1:c.*42C>T (TREX1) | ENSP00000415972.1:n.*42C>T | |
| ENST00000456089.1:c.*42C>T (TREX1) | ENSP00000411331.1:n.*42C>T | |
| ENST00000625293.1:c.*42C>T (TREX1) | ENSP00000486676.1:n.*42C>T | |
| ENST00000634384.1:c.*3807C>T | ENSP00000489041.1:n.*3807C>T | |
| ENST00000635452.1:n.2194C>T | ||
| ENST00000635464.1:c.3940C>T | ENSP00000489199.1:n.3940C>T | |
| NM_007248.3:c.*42C>T (TREX1) | NP_009179.2:n.*42C>T | |
| NM_016381.5:c.*42C>T (TREX1) | NP_057465.1:n.*42C>T | |
| NM_033629.4:c.*42C>T (TREX1) | NP_338599.1:n.*42C>T | |
| NM_007248.4:c.*42C>T (TREX1) | NP_009179.2:n.*42C>T | |
| NM_033629.5:c.*42C>T (TREX1) | NP_338599.1:n.*42C>T | |
| NR_153405.1:n.4296C>T | ||
| NM_033629.6:c.*42C>T (TREX1) MANE Select | NP_338599.1:n.*42C>T | |
| NM_130384.3:c.*2088C>T (ATRIP) MANE Select | NP_569055.1:n.*2088C>T | |
| NM_001271023.2:c.*2088C>T (ATRIP) | NP_001257952.1:n.*2088C>T | |
| NM_007248.5:c.*42C>T (TREX1) | NP_009179.2:n.*42C>T | |
| NM_032166.4:c.*2088C>T (ATRIP) | NP_115542.2:n.*2088C>T | |
| NM_001271022.2:c.*2088C>T (ATRIP) | NP_001257951.1:n.*2088C>T |