Linked Data
ClinVar Variation Id:
210866
dbSNP Id:
rs150286673
ExAC:
14:102515844 C / T
gnomAD v2:
14-102515844-C-T
gnomAD v3:
14-102049507-C-T
gnomAD v4:
14-102049507-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.102049507C>T , CM000676.2:g.102049507C>T | GRCh38 |
| NC_000014.8:g.102515844C>T , CM000676.1:g.102515844C>T | GRCh37 |
| NC_000014.7:g.101585597C>T | NCBI36 |
| NG_008777.1:g.89980C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684561.1:c.*4899C>T | ENSP00000506816.1:n.*4899C>T | |
| ENST00000360184.10:c.13440C>T MANE Select | ENSP00000348965.4:p.Ser4480= | |
| ENST00000553701.1:n.346+938G>A | ||
| ENST00000555062.2:n.513C>T | ||
| ENST00000556229.2:n.1603C>T | ||
| ENST00000557242.1:n.328+3020G>A | ||
| ENST00000643437.1:n.4164C>T | ||
| ENST00000643591.1:n.2003C>T | ||
| ENST00000643729.1:n.1843C>T | ||
| ENST00000643829.1:n.3396C>T | ||
| ENST00000644239.2:n.1576C>T | ||
| ENST00000644794.1:n.4816C>T | ||
| ENST00000644881.2:c.13440C>T | ENSP00000495022.2:p.Ser4480= | |
| ENST00000645039.2:c.*1291C>T | ENSP00000495220.2:n.*1291C>T | |
| ENST00000645085.1:n.1686C>T | ||
| ENST00000645149.2:c.13293C>T | ENSP00000495944.2:p.Ser4431= | |
| ENST00000645978.2:n.502C>T | ||
| ENST00000647143.1:n.1845C>T | ||
| ENST00000647204.2:n.3546C>T | ||
| ENST00000647366.1:n.6994C>T | ||
| ENST00000679720.1:c.13440C>T | ENSP00000505938.1:p.Ser4480= | |
| ENST00000679910.1:c.*4522C>T | ENSP00000506521.1:n.*4522C>T | |
| ENST00000680120.1:c.*199C>T | ENSP00000504863.1:n.*199C>T | |
| ENST00000680178.1:n.1769C>T | ||
| ENST00000680200.1:c.*2699C>T | ENSP00000506166.1:n.*2699C>T | |
| ENST00000680313.1:c.*186C>T | ENSP00000506208.1:n.*186C>T | |
| ENST00000680423.1:c.*5171C>T | ENSP00000505483.1:n.*5171C>T | |
| ENST00000680715.1:c.*730C>T | ENSP00000505332.1:n.*730C>T | |
| ENST00000681066.1:c.*1463C>T | ENSP00000506344.1:n.*1463C>T | |
| ENST00000681283.1:c.*2152C>T | ENSP00000505667.1:n.*2152C>T | |
| ENST00000681536.1:c.*6639C>T | ENSP00000505821.1:n.*6639C>T | |
| ENST00000681574.1:c.13440C>T | ENSP00000505523.1:p.Ser4480= | |
| ENST00000681822.1:c.13440C>T | ENSP00000505744.1:p.Ser4480= | |
| ENST00000360184.8:c.13440C>T | ENSP00000348965.4:p.Ser4480= | |
| ENST00000555062.1:n.490C>T | ||
| NM_001376.4:c.13440C>T | NP_001367.2:p.Ser4480= | |
| NM_001376.5:c.13440C>T MANE Select | NP_001367.2:p.Ser4480= |