Linked Data
ClinVar Variation Id:
161478
ClinVar RCV Id:
RCV000149012
dbSNP Id:
rs193920907
COSMIC:
COSM1180140
PubMed:
PMID:23265383
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5632327G>A , CM000673.2:g.5632327G>A | GRCh38 |
| NC_000011.9:g.5653557G>A , CM000673.1:g.5653557G>A | GRCh37 |
| NC_000011.8:g.5610133G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380259.7:c.411-5473C>T | ENSP00000369609.3:n.411-5473C>T | |
| ENST00000429814.3:c.-5G>A (TRIM34) MANE Select | ENSP00000402595.2:n.-5G>A | |
| ENST00000642298.1:n.330+13358C>T | ||
| ENST00000354852.5:c.1058G>A (TRIM6-TRIM34) | ENSP00000346916.5:p.Ser353Asn | |
| ENST00000380259.6:c.-1136-5473C>T (HBG2) | ENSP00000369609.2:n.-1136-5473C>T | |
| ENST00000429814.2:c.-5G>A (TRIM34) | ENSP00000402595.2:n.-5G>A | |
| ENST00000491385.1:n.47G>A (TRIM34) | ||
| ENST00000514226.5:c.-5G>A (TRIM34) | ENSP00000422947.1:n.-5G>A | |
| NM_001003819.3:c.1058G>A (TRIM6-TRIM34) | NP_001003819.1:p.Ser353Asn | |
| NM_001003827.1:c.-5G>A (TRIM34) | NP_001003827.1:n.-5G>A | |
| NM_021616.5:c.-5G>A (TRIM34) | NP_067629.2:n.-5G>A | |
| NM_130390.2:c.-5G>A (TRIM34) | NP_569074.2:n.-5G>A | |
| XR_930919.1:n.1371+13358C>T (TRIM5) | ||
| XR_001748014.2:n.1352+13358C>T (TRIM5) | ||
| XR_001748015.2:n.1251+13358C>T (TRIM5) | ||
| XR_001748018.2:n.1201+13358C>T (TRIM5) | ||
| NM_001003819.4:c.1058G>A (TRIM6-TRIM34) | NP_001003819.1:p.Ser353Asn | |
| NM_021616.6:c.-5G>A (TRIM34) MANE Select | NP_067629.2:n.-5G>A |