Linked Data
ClinVar Variation Id:
312665
dbSNP Id:
rs200901713
ExAC:
14:102515927 C / T
gnomAD v2:
14-102515927-C-T
gnomAD v3:
14-102049590-C-T
gnomAD v4:
14-102049590-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.102049590C>T , CM000676.2:g.102049590C>T | GRCh38 |
| NC_000014.8:g.102515927C>T , CM000676.1:g.102515927C>T | GRCh37 |
| NC_000014.7:g.101585680C>T | NCBI36 |
| NG_008777.1:g.90063C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684561.1:c.*4974+8C>T | ENSP00000506816.1:n.*4974+8C>T | |
| ENST00000360184.10:c.13515+8C>T MANE Select | ENSP00000348965.4:n.13515+8C>T | |
| ENST00000553701.1:n.346+855G>A | ||
| ENST00000555062.2:n.596C>T | ||
| ENST00000556229.2:n.1678+8C>T | ||
| ENST00000557242.1:n.328+2937G>A | ||
| ENST00000643437.1:n.4239+8C>T | ||
| ENST00000643591.1:n.2078+8C>T | ||
| ENST00000643729.1:n.1926C>T | ||
| ENST00000643829.1:n.3471+8C>T | ||
| ENST00000644239.2:n.1651+8C>T | ||
| ENST00000644881.2:c.13515+8C>T | ENSP00000495022.2:n.13515+8C>T | |
| ENST00000645039.2:c.*1366+8C>T | ENSP00000495220.2:n.*1366+8C>T | |
| ENST00000645085.1:n.1761+8C>T | ||
| ENST00000645149.2:c.13368+8C>T | ENSP00000495944.2:n.13368+8C>T | |
| ENST00000645978.2:n.585C>T | ||
| ENST00000647143.1:n.1920+8C>T | ||
| ENST00000647204.2:n.3621+8C>T | ||
| ENST00000647366.1:n.7069+8C>T | ||
| ENST00000679720.1:c.13515+8C>T | ENSP00000505938.1:n.13515+8C>T | |
| ENST00000679910.1:c.*4597+8C>T | ENSP00000506521.1:n.*4597+8C>T | |
| ENST00000680120.1:c.*274+8C>T | ENSP00000504863.1:n.*274+8C>T | |
| ENST00000680178.1:n.1852C>T | ||
| ENST00000680200.1:c.*2774+8C>T | ENSP00000506166.1:n.*2774+8C>T | |
| ENST00000680313.1:c.*261+8C>T | ENSP00000506208.1:n.*261+8C>T | |
| ENST00000680423.1:c.*5246+8C>T | ENSP00000505483.1:n.*5246+8C>T | |
| ENST00000680715.1:c.*805+8C>T | ENSP00000505332.1:n.*805+8C>T | |
| ENST00000681066.1:c.*1538+8C>T | ENSP00000506344.1:n.*1538+8C>T | |
| ENST00000681283.1:c.*2227+8C>T | ENSP00000505667.1:n.*2227+8C>T | |
| ENST00000681536.1:c.*6714+8C>T | ENSP00000505821.1:n.*6714+8C>T | |
| ENST00000681574.1:c.13515+8C>T | ENSP00000505523.1:n.13515+8C>T | |
| ENST00000681822.1:c.13523C>T | ENSP00000505744.1:p.Ala4508Val | |
| ENST00000360184.8:c.13515+8C>T | ENSP00000348965.4:n.13515+8C>T | |
| ENST00000555062.1:n.573C>T | ||
| NM_001376.4:c.13515+8C>T | NP_001367.2:n.13515+8C>T | |
| NM_001376.5:c.13515+8C>T MANE Select | NP_001367.2:n.13515+8C>T |