Linked Data
ClinVar Variation Id:
312657
dbSNP Id:
rs199792795
ExAC:
14:102510631 G / A
gnomAD v2:
14-102510631-G-A
gnomAD v3:
14-102044294-G-A
gnomAD v4:
14-102044294-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.102044294G>A , CM000676.2:g.102044294G>A | GRCh38 |
| NC_000014.8:g.102510631G>A , CM000676.1:g.102510631G>A | GRCh37 |
| NC_000014.7:g.101580384G>A | NCBI36 |
| NG_008777.1:g.84767G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684561.1:c.*4164G>A | ENSP00000506816.1:n.*4164G>A | |
| ENST00000360184.10:c.12705G>A MANE Select | ENSP00000348965.4:p.Pro4235= | |
| ENST00000553701.1:n.346+6151C>T | ||
| ENST00000557242.1:n.329-7525C>T | ||
| ENST00000557551.1:n.110C>T | ||
| ENST00000642716.1:n.742G>A | ||
| ENST00000643437.1:n.2659G>A | ||
| ENST00000643591.1:n.498G>A | ||
| ENST00000643829.1:n.2661G>A | ||
| ENST00000644239.2:n.841G>A | ||
| ENST00000644794.1:n.2824G>A | ||
| ENST00000644881.2:c.12705G>A | ENSP00000495022.2:p.Pro4235= | |
| ENST00000645039.2:c.*556G>A | ENSP00000495220.2:n.*556G>A | |
| ENST00000645085.1:n.951G>A | ||
| ENST00000645149.2:c.12558G>A | ENSP00000495944.2:p.Pro4186= | |
| ENST00000646418.1:n.1162G>A | ||
| ENST00000647204.2:n.2041G>A | ||
| ENST00000647366.1:n.6259G>A | ||
| ENST00000679486.1:c.*693G>A | ENSP00000506688.1:n.*693G>A | |
| ENST00000679720.1:c.12705G>A | ENSP00000505938.1:p.Pro4235= | |
| ENST00000679910.1:c.*3787G>A | ENSP00000506521.1:n.*3787G>A | |
| ENST00000680120.1:c.12705G>A | ENSP00000504863.1:p.Pro4235= | |
| ENST00000680200.1:c.*1964G>A | ENSP00000506166.1:n.*1964G>A | |
| ENST00000680313.1:c.12705G>A | ENSP00000506208.1:p.Pro4235= | |
| ENST00000680423.1:c.*4436G>A | ENSP00000505483.1:n.*4436G>A | |
| ENST00000680715.1:c.12700G>A | ENSP00000505332.1:p.Gly4234Arg | |
| ENST00000681010.1:c.*388G>A | ENSP00000505201.1:n.*388G>A | |
| ENST00000681066.1:c.*728G>A | ENSP00000506344.1:n.*728G>A | |
| ENST00000681283.1:c.*1417G>A | ENSP00000505667.1:n.*1417G>A | |
| ENST00000681536.1:c.*5904G>A | ENSP00000505821.1:n.*5904G>A | |
| ENST00000681574.1:c.12705G>A | ENSP00000505523.1:p.Pro4235= | |
| ENST00000681822.1:c.12705G>A | ENSP00000505744.1:p.Pro4235= | |
| ENST00000360184.8:c.12705G>A | ENSP00000348965.4:p.Pro4235= | |
| NM_001376.4:c.12705G>A | NP_001367.2:p.Pro4235= | |
| NM_001376.5:c.12705G>A MANE Select | NP_001367.2:p.Pro4235= |