Linked Data
ClinVar Variation Id:
1901366
ClinVar RCV Id:
RCV002576915
dbSNP Id:
rs748508425
ExAC:
2:3482719 C / T
gnomAD v2:
2-3482719-C-T
gnomAD v3:
2-3478948-C-T
gnomAD v4:
2-3478948-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.3478948C>T , CM000664.2:g.3478948C>T | GRCh38 |
| NC_000002.11:g.3482719C>T , CM000664.1:g.3482719C>T | GRCh37 |
| NC_000002.10:g.3461726C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324266.10:c.1965+15C>T (TRAPPC12) MANE Select | ENSP00000324318.5:n.1965+15C>T | |
| ENST00000324266.9:c.1965+15C>T (TRAPPC12) | ENSP00000324318.5:n.1965+15C>T | |
| ENST00000382110.6:c.1965+15C>T (TRAPPC12) | ENSP00000371544.2:n.1965+15C>T | |
| ENST00000415624.5:c.462+15C>T (TRAPPC12) | ENSP00000396592.1:n.462+15C>T | |
| ENST00000416918.5:c.124+15C>T (TRAPPC12) | ||
| ENST00000417243.5:c.698+15C>T (TRAPPC12) | ||
| ENST00000452495.1:c.169+15C>T (TRAPPC12) | ||
| ENST00000469400.1:n.371+15C>T (TRAPPC12) | ||
| ENST00000493792.1:n.220+15C>T (TRAPPC12) | ||
| ENST00000497597.5:n.3053+15C>T (TRAPPC12) | ||
| NM_016030.5:c.1965+15C>T (TRAPPC12) | NP_057114.5:n.1965+15C>T | |
| XM_005264693.2:c.1965+15C>T (TRAPPC12) | XP_005264750.1:n.1965+15C>T | |
| XM_011510350.1:c.1851+15C>T (TRAPPC12) | XP_011508652.1:n.1851+15C>T | |
| XM_011510355.1:c.1020+15C>T (TRAPPC12) | XP_011508657.1:n.1020+15C>T | |
| XM_011510356.1:c.897+15C>T (TRAPPC12) | XP_011508658.1:n.897+15C>T | |
| XR_426956.2:n.2062+15C>T (TRAPPC12) | ||
| NM_001321102.1:c.1965+15C>T (TRAPPC12) | NP_001308031.1:n.1965+15C>T | |
| XM_011510350.2:c.1851+15C>T (TRAPPC12) | XP_011508652.1:n.1851+15C>T | |
| XM_011510355.2:c.1020+15C>T (TRAPPC12) | XP_011508657.1:n.1020+15C>T | |
| XR_001738762.1:n.3085+15C>T (TRAPPC12) | ||
| XR_426956.3:n.2500+15C>T (TRAPPC12) | ||
| NM_016030.6:c.1965+15C>T (TRAPPC12) MANE Select | NP_057114.5:n.1965+15C>T | |
| NM_001321102.2:c.1965+15C>T (TRAPPC12) | NP_001308031.1:n.1965+15C>T | |
| NR_046720.1:n.4046G>A (TRAPPC12-AS1) |