Linked Data
ClinVar Variation Id:
467831
dbSNP Id:
rs11797
gnomAD v3:
3-48467186-T-C
gnomAD v4:
3-48467186-T-C
MyVariant Identifiers:
chr3:g.48467186T>C (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.48467186T>C , CM000665.2:g.48467186T>C | GRCh38 |
| NG_041782.1:g.25477T>C | |
| NG_009820.2:g.6357T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320211.10:c.*1632T>C (ATRIP) MANE Select | ENSP00000323099.3:n.*1632T>C | |
| ENST00000492235.2:c.114T>C (TREX1) | ENSP00000494511.1:p.Tyr38= | |
| ENST00000625293.3:c.531T>C (TREX1) MANE Select | ENSP00000486676.2:p.Tyr177= | |
| ENST00000634384.2:c.3126T>C (ATRIP) | ||
| ENST00000635452.2:c.114T>C (TREX1) | ENSP00000492023.2:p.Tyr38= | |
| ENST00000296443.11:c.531T>C | ENSP00000296443.11:p.Tyr177= | |
| ENST00000433541.1:c.114T>C (TREX1) | ENSP00000412404.1:p.Tyr38= | |
| ENST00000444177.1:c.501T>C (TREX1) | ENSP00000415972.1:p.Tyr167= | |
| ENST00000456089.1:c.114T>C (TREX1) | ENSP00000411331.1:p.Tyr38= | |
| ENST00000492235.1:n.449T>C (TREX1) | ||
| ENST00000625293.1:c.696T>C (TREX1) | ENSP00000486676.1:p.Tyr232= | |
| ENST00000629913.1:c.531T>C (TREX1) | ENSP00000486444.1:p.Tyr177= | |
| ENST00000634384.1:c.*3351T>C | ENSP00000489041.1:n.*3351T>C | |
| ENST00000635452.1:n.1738T>C | ||
| ENST00000635464.1:c.3484T>C | ENSP00000489199.1:n.3484T>C | |
| NM_007248.3:c.501T>C (TREX1) | NP_009179.2:p.Tyr167= | |
| NM_016381.5:c.696T>C (TREX1) | NP_057465.1:p.Tyr232= | |
| NM_033629.4:c.531T>C (TREX1) | NP_338599.1:p.Tyr177= | |
| NM_007248.4:c.501T>C (TREX1) | NP_009179.2:p.Tyr167= | |
| NM_033629.5:c.531T>C (TREX1) | NP_338599.1:p.Tyr177= | |
| NR_153405.1:n.3840T>C | ||
| NM_033629.6:c.531T>C (TREX1) MANE Select | NP_338599.1:p.Tyr177= | |
| NM_130384.3:c.*1632T>C (ATRIP) MANE Select | NP_569055.1:n.*1632T>C | |
| NM_001271023.2:c.*1632T>C (ATRIP) | NP_001257952.1:n.*1632T>C | |
| NM_007248.5:c.501T>C (TREX1) | NP_009179.2:p.Tyr167= | |
| NM_032166.4:c.*1632T>C (ATRIP) | NP_115542.2:n.*1632T>C | |
| NM_001271022.2:c.*1632T>C (ATRIP) | NP_001257951.1:n.*1632T>C |