Linked Data
ClinVar Variation Id:
2437252
ClinVar RCV Id:
RCV003141172
dbSNP Id:
rs779320275
gnomAD v2:
2-3483095-G-C
gnomAD v3:
2-3479324-G-C
gnomAD v4:
2-3479324-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.3479324G>C , CM000664.2:g.3479324G>C | GRCh38 |
| NC_000002.11:g.3483095G>C , CM000664.1:g.3483095G>C | GRCh37 |
| NC_000002.10:g.3462102G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324266.10:c.2071G>C (TRAPPC12) MANE Select | ENSP00000324318.5:p.Glu691Gln | |
| ENST00000324266.9:c.2071G>C (TRAPPC12) | ENSP00000324318.5:p.Glu691Gln | |
| ENST00000382110.6:c.2071G>C (TRAPPC12) | ENSP00000371544.2:p.Glu691Gln | |
| ENST00000415624.5:c.568G>C (TRAPPC12) | ENSP00000396592.1:p.Glu190Gln | |
| ENST00000416918.5:c.230G>C (TRAPPC12) | ||
| ENST00000417243.5:c.804G>C (TRAPPC12) | ||
| ENST00000452495.1:c.169+391G>C (TRAPPC12) | ||
| ENST00000469400.1:n.477G>C (TRAPPC12) | ||
| ENST00000493792.1:n.326G>C (TRAPPC12) | ||
| ENST00000497597.5:n.3159G>C (TRAPPC12) | ||
| NM_016030.5:c.2071G>C (TRAPPC12) | NP_057114.5:p.Glu691Gln | |
| XM_005264693.2:c.2071G>C (TRAPPC12) | XP_005264750.1:p.Glu691Gln | |
| XM_011510350.1:c.1957G>C (TRAPPC12) | XP_011508652.1:p.Glu653Gln | |
| XM_011510355.1:c.1126G>C (TRAPPC12) | XP_011508657.1:p.Glu376Gln | |
| XM_011510356.1:c.1003G>C (TRAPPC12) | XP_011508658.1:p.Glu335Gln | |
| XR_426956.2:n.2168G>C (TRAPPC12) | ||
| NM_001321102.1:c.2071G>C (TRAPPC12) | NP_001308031.1:p.Glu691Gln | |
| XM_011510350.2:c.1957G>C (TRAPPC12) | XP_011508652.1:p.Glu653Gln | |
| XM_011510355.2:c.1126G>C (TRAPPC12) | XP_011508657.1:p.Glu376Gln | |
| XR_001738762.1:n.3191G>C (TRAPPC12) | ||
| XR_426956.3:n.2606G>C (TRAPPC12) | ||
| NM_016030.6:c.2071G>C (TRAPPC12) MANE Select | NP_057114.5:p.Glu691Gln | |
| NM_001321102.2:c.2071G>C (TRAPPC12) | NP_001308031.1:p.Glu691Gln | |
| NR_046720.1:n.3670C>G (TRAPPC12-AS1) |