Linked Data
ClinVar Variation Id:
403565
dbSNP Id:
rs1043730
ExAC:
6:111901453 G / T
gnomAD v2:
6-111901453-G-T
gnomAD v3:
6-111580250-G-T
gnomAD v4:
6-111580250-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.111580250G>T , CM000668.2:g.111580250G>T | GRCh38 |
| NC_000006.11:g.111901453G>T , CM000668.1:g.111901453G>T | GRCh37 |
| NC_000006.10:g.112008146G>T | NCBI36 |
| NG_032030.1:g.31025C>A | |
| NG_032030.2:g.30629C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651547.2:c.969C>A (TRAF3IP2) | ENSP00000514681.1:p.His323Gln | |
| ENST00000699910.1:c.969C>A (TRAF3IP2) | ENSP00000514682.1:p.His323Gln | |
| ENST00000699911.1:n.1261C>A (TRAF3IP2) | ||
| ENST00000368761.11:c.969C>A (TRAF3IP2) MANE Select | ENSP00000357750.5:p.His323Gln | |
| ENST00000340026.10:c.996C>A (TRAF3IP2) | ENSP00000345984.6:p.His332Gln | |
| ENST00000359831.8:c.969C>A (TRAF3IP2) | ENSP00000352889.4:p.His323Gln | |
| ENST00000368761.9:c.969C>A (TRAF3IP2) | ENSP00000357750.5:p.His323Gln | |
| ENST00000392556.8:c.996C>A (TRAF3IP2) | ENSP00000376339.5:p.His332Gln | |
| ENST00000528599.1:n.1164C>A (TRAF3IP2) | ||
| ENST00000532708.5:n.1195C>A (TRAF3IP2) | ||
| NM_001164281.2:c.969C>A (TRAF3IP2) | NP_001157753.1:p.His323Gln | |
| NM_147200.2:c.996C>A (TRAF3IP2) | NP_671733.2:p.His332Gln | |
| NM_147686.3:c.969C>A (TRAF3IP2) | NP_679211.2:p.His323Gln | |
| NR_034108.1:n.485+3780G>T (TRAF3IP2-AS1) | ||
| NR_034109.1:n.195-17588G>T (TRAF3IP2-AS1) | ||
| XM_011535386.1:c.996C>A (TRAF3IP2) | XP_011533688.1:p.His332Gln | |
| XM_011535386.2:c.996C>A (TRAF3IP2) | XP_011533688.1:p.His332Gln | |
| NM_147686.4:c.969C>A (TRAF3IP2) MANE Select | NP_679211.2:p.His323Gln | |
| NM_147200.3:c.996C>A (TRAF3IP2) | NP_671733.2:p.His332Gln | |
| NM_001164281.3:c.969C>A (TRAF3IP2) | NP_001157753.1:p.His323Gln |