Linked Data
ClinVar Variation Id:
880799
dbSNP Id:
rs775444653
ExAC:
14:102505497 T / C
gnomAD v2:
14-102505497-T-C
gnomAD v3:
14-102039160-T-C
gnomAD v4:
14-102039160-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.102039160T>C , CM000676.2:g.102039160T>C | GRCh38 |
| NC_000014.8:g.102505497T>C , CM000676.1:g.102505497T>C | GRCh37 |
| NC_000014.7:g.101575250T>C | NCBI36 |
| NG_008777.1:g.79633T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684561.1:c.*2825T>C | ENSP00000506816.1:n.*2825T>C | |
| ENST00000360184.10:c.11366T>C MANE Select | ENSP00000348965.4:p.Ile3789Thr | |
| ENST00000553701.1:n.347-2391A>G | ||
| ENST00000557242.1:n.329-2391A>G | ||
| ENST00000557551.1:n.112-2391A>G | ||
| ENST00000643437.1:n.1320T>C | ||
| ENST00000643829.1:n.1195T>C | ||
| ENST00000644794.1:n.1485T>C | ||
| ENST00000644881.2:c.11366T>C | ENSP00000495022.2:p.Ile3789Thr | |
| ENST00000645039.2:c.11366T>C | ENSP00000495220.2:p.Ile3789Thr | |
| ENST00000645149.2:c.11219T>C | ENSP00000495944.2:p.Ile3740Thr | |
| ENST00000645697.1:n.2029T>C | ||
| ENST00000647204.2:n.607T>C | ||
| ENST00000647366.1:n.4920T>C | ||
| ENST00000679486.1:c.11366T>C | ENSP00000506688.1:p.Ile3789Thr | |
| ENST00000679629.1:c.11366T>C | ENSP00000505589.1:p.Ile3789Thr | |
| ENST00000679720.1:c.11366T>C | ENSP00000505938.1:p.Ile3789Thr | |
| ENST00000679910.1:c.*2448T>C | ENSP00000506521.1:n.*2448T>C | |
| ENST00000680120.1:c.11366T>C | ENSP00000504863.1:p.Ile3789Thr | |
| ENST00000680200.1:c.*625T>C | ENSP00000506166.1:n.*625T>C | |
| ENST00000680313.1:c.11366T>C | ENSP00000506208.1:p.Ile3789Thr | |
| ENST00000680423.1:c.*3097T>C | ENSP00000505483.1:n.*3097T>C | |
| ENST00000680715.1:c.11366T>C | ENSP00000505332.1:p.Ile3789Thr | |
| ENST00000681010.1:c.11366T>C | ENSP00000505201.1:p.Ile3789Thr | |
| ENST00000681066.1:c.11366T>C | ENSP00000506344.1:p.Ile3789Thr | |
| ENST00000681123.1:c.11366T>C | ENSP00000506124.1:p.Ile3789Thr | |
| ENST00000681283.1:c.*78T>C | ENSP00000505667.1:n.*78T>C | |
| ENST00000681536.1:c.*4565T>C | ENSP00000505821.1:n.*4565T>C | |
| ENST00000681574.1:c.11366T>C | ENSP00000505523.1:p.Ile3789Thr | |
| ENST00000681822.1:c.11366T>C | ENSP00000505744.1:p.Ile3789Thr | |
| ENST00000360184.8:c.11366T>C | ENSP00000348965.4:p.Ile3789Thr | |
| NM_001376.4:c.11366T>C | NP_001367.2:p.Ile3789Thr | |
| NM_001376.5:c.11366T>C MANE Select | NP_001367.2:p.Ile3789Thr |