Linked Data
ClinVar Variation Id:
514938
dbSNP Id:
rs374578144
ExAC:
14:102514864 C / T
gnomAD v2:
14-102514864-C-T
gnomAD v3:
14-102048527-C-T
gnomAD v4:
14-102048527-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.102048527C>T , CM000676.2:g.102048527C>T | GRCh38 |
| NC_000014.8:g.102514864C>T , CM000676.1:g.102514864C>T | GRCh37 |
| NC_000014.7:g.101584617C>T | NCBI36 |
| NG_008777.1:g.89000C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684561.1:c.*4689C>T | ENSP00000506816.1:n.*4689C>T | |
| ENST00000360184.10:c.13230C>T MANE Select | ENSP00000348965.4:p.Phe4410= | |
| ENST00000553701.1:n.346+1918G>A | ||
| ENST00000555062.2:n.303C>T | ||
| ENST00000556229.2:n.623C>T | ||
| ENST00000557242.1:n.328+4000G>A | ||
| ENST00000643437.1:n.3184C>T | ||
| ENST00000643591.1:n.1023C>T | ||
| ENST00000643729.1:n.863C>T | ||
| ENST00000643829.1:n.3186C>T | ||
| ENST00000644239.2:n.1366C>T | ||
| ENST00000644794.1:n.3836C>T | ||
| ENST00000644881.2:c.13230C>T | ENSP00000495022.2:p.Phe4410= | |
| ENST00000645039.2:c.*1081C>T | ENSP00000495220.2:n.*1081C>T | |
| ENST00000645085.1:n.1476C>T | ||
| ENST00000645149.2:c.13083C>T | ENSP00000495944.2:p.Phe4361= | |
| ENST00000647143.1:n.865C>T | ||
| ENST00000647204.2:n.2566C>T | ||
| ENST00000647366.1:n.6784C>T | ||
| ENST00000679720.1:c.13230C>T | ENSP00000505938.1:p.Phe4410= | |
| ENST00000679910.1:c.*4312C>T | ENSP00000506521.1:n.*4312C>T | |
| ENST00000680120.1:c.13219-3C>T | ENSP00000504863.1:n.13219-3C>T | |
| ENST00000680178.1:n.789C>T | ||
| ENST00000680200.1:c.*2489C>T | ENSP00000506166.1:n.*2489C>T | |
| ENST00000680313.1:c.13230C>T | ENSP00000506208.1:p.Phe4410= | |
| ENST00000680423.1:c.*4961C>T | ENSP00000505483.1:n.*4961C>T | |
| ENST00000680715.1:c.*520C>T | ENSP00000505332.1:n.*520C>T | |
| ENST00000681066.1:c.*1253C>T | ENSP00000506344.1:n.*1253C>T | |
| ENST00000681283.1:c.*1942C>T | ENSP00000505667.1:n.*1942C>T | |
| ENST00000681536.1:c.*6429C>T | ENSP00000505821.1:n.*6429C>T | |
| ENST00000681574.1:c.13230C>T | ENSP00000505523.1:p.Phe4410= | |
| ENST00000681822.1:c.13230C>T | ENSP00000505744.1:p.Phe4410= | |
| ENST00000360184.8:c.13230C>T | ENSP00000348965.4:p.Phe4410= | |
| ENST00000555062.1:n.280C>T | ||
| ENST00000556229.1:n.380C>T | ||
| NM_001376.4:c.13230C>T | NP_001367.2:p.Phe4410= | |
| NM_001376.5:c.13230C>T MANE Select | NP_001367.2:p.Phe4410= |