Linked Data
ClinVar Variation Id:
128931
dbSNP Id:
rs17541657
ExAC:
14:102515010 C / T
gnomAD v2:
14-102515010-C-T
gnomAD v3:
14-102048673-C-T
gnomAD v4:
14-102048673-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.102048673C>T , CM000676.2:g.102048673C>T | GRCh38 |
| NC_000014.8:g.102515010C>T , CM000676.1:g.102515010C>T | GRCh37 |
| NC_000014.7:g.101584763C>T | NCBI36 |
| NG_008777.1:g.89146C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000684561.1:c.*4831+4C>T | ENSP00000506816.1:n.*4831+4C>T | |
| ENST00000360184.10:c.13372+4C>T MANE Select | ENSP00000348965.4:n.13372+4C>T | |
| ENST00000553701.1:n.346+1772G>A | ||
| ENST00000555062.2:n.445+4C>T | ||
| ENST00000556229.2:n.769C>T | ||
| ENST00000557242.1:n.328+3854G>A | ||
| ENST00000643437.1:n.3330C>T | ||
| ENST00000643591.1:n.1169C>T | ||
| ENST00000643729.1:n.1009C>T | ||
| ENST00000643829.1:n.3328+4C>T | ||
| ENST00000644239.2:n.1508+4C>T | ||
| ENST00000644794.1:n.3982C>T | ||
| ENST00000644881.2:c.13372+4C>T | ENSP00000495022.2:n.13372+4C>T | |
| ENST00000645039.2:c.*1223+4C>T | ENSP00000495220.2:n.*1223+4C>T | |
| ENST00000645085.1:n.1618+4C>T | ||
| ENST00000645149.2:c.13225+4C>T | ENSP00000495944.2:n.13225+4C>T | |
| ENST00000647143.1:n.1011C>T | ||
| ENST00000647204.2:n.2712C>T | ||
| ENST00000647366.1:n.6926+4C>T | ||
| ENST00000679720.1:c.13372+4C>T | ENSP00000505938.1:n.13372+4C>T | |
| ENST00000679910.1:c.*4454+4C>T | ENSP00000506521.1:n.*4454+4C>T | |
| ENST00000680120.1:c.*131+4C>T | ENSP00000504863.1:n.*131+4C>T | |
| ENST00000680178.1:n.935C>T | ||
| ENST00000680200.1:c.*2631+4C>T | ENSP00000506166.1:n.*2631+4C>T | |
| ENST00000680313.1:c.13372+4C>T | ENSP00000506208.1:n.13372+4C>T | |
| ENST00000680423.1:c.*5103+4C>T | ENSP00000505483.1:n.*5103+4C>T | |
| ENST00000680715.1:c.*662+4C>T | ENSP00000505332.1:n.*662+4C>T | |
| ENST00000681066.1:c.*1395+4C>T | ENSP00000506344.1:n.*1395+4C>T | |
| ENST00000681283.1:c.*2084+4C>T | ENSP00000505667.1:n.*2084+4C>T | |
| ENST00000681536.1:c.*6571+4C>T | ENSP00000505821.1:n.*6571+4C>T | |
| ENST00000681574.1:c.13372+4C>T | ENSP00000505523.1:n.13372+4C>T | |
| ENST00000681822.1:c.13372+4C>T | ENSP00000505744.1:n.13372+4C>T | |
| ENST00000360184.8:c.13372+4C>T | ENSP00000348965.4:n.13372+4C>T | |
| ENST00000555062.1:n.422+4C>T | ||
| ENST00000556229.1:n.526C>T | ||
| NM_001376.4:c.13372+4C>T | NP_001367.2:n.13372+4C>T | |
| NM_001376.5:c.13372+4C>T MANE Select | NP_001367.2:n.13372+4C>T |