Linked Data
ClinVar Variation Id:
314982
dbSNP Id:
rs199937850
ExAC:
14:92506053 C / T
gnomAD v2:
14-92506053-C-T
gnomAD v3:
14-92039709-C-T
gnomAD v4:
14-92039709-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.92039709C>T , CM000676.2:g.92039709C>T | GRCh38 |
| NC_000014.8:g.92506053C>T , CM000676.1:g.92506053C>T | GRCh37 |
| NC_000014.7:g.91575806C>T | NCBI36 |
| NG_008198.2:g.71913G>A | |
| NG_016970.1:g.5351G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000267622.8:c.-24G>A (TRIP11) MANE Select | ENSP00000267622.4:n.-24G>A | |
| ENST00000555105.1:n.309G>A (TRIP11) | ||
| ENST00000555516.6:c.-345+1171G>A (TRIP11) | ENSP00000451944.1:n.-345+1171G>A | |
| ENST00000558190.5:c.*24611G>A (ATXN3) | ENSP00000478320.1:n.*24611G>A | |
| NM_004239.3:c.-24G>A (TRIP11) | NP_004230.2:n.-24G>A | |
| XM_005268215.2:c.-24G>A (TRIP11) | XP_005268272.1:n.-24G>A | |
| XM_006720321.2:c.-24G>A (TRIP11) | XP_006720384.1:n.-24G>A | |
| XM_011537361.1:c.-24G>A (TRIP11) | XP_011535663.1:n.-24G>A | |
| XR_943560.1:n.432G>A (TRIP11) | ||
| NM_001321851.1:c.-24G>A (TRIP11) | NP_001308780.1:n.-24G>A | |
| NM_004239.4:c.-24G>A (TRIP11) MANE Select | NP_004230.2:n.-24G>A | |
| XM_017021787.2:c.-770G>A (TRIP11) | XP_016877276.1:n.-770G>A | |
| XM_017021788.2:c.-1222G>A (TRIP11) | XP_016877277.1:n.-1222G>A | |
| XR_001750598.2:n.426G>A (TRIP11) | ||
| XR_943560.2:n.426G>A (TRIP11) |