Linked Data
ClinVar Variation Id:
434982
dbSNP Id:
rs544608488
ExAC:
14:102516473 G / A
gnomAD v2:
14-102516473-G-A
gnomAD v3:
14-102050136-G-A
gnomAD v4:
14-102050136-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.102050136G>A , CM000676.2:g.102050136G>A | GRCh38 |
| NC_000014.8:g.102516473G>A , CM000676.1:g.102516473G>A | GRCh37 |
| NC_000014.7:g.101586226G>A | NCBI36 |
| NG_008777.1:g.90609G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684561.1:c.*5209G>A | ENSP00000506816.1:n.*5209G>A | |
| ENST00000360184.10:c.13750G>A MANE Select | ENSP00000348965.4:p.Ala4584Thr | |
| ENST00000553701.1:n.346+309C>T | ||
| ENST00000555062.2:n.954G>A | ||
| ENST00000556229.2:n.1913G>A | ||
| ENST00000557242.1:n.328+2391C>T | ||
| ENST00000643437.1:n.4474G>A | ||
| ENST00000643591.1:n.2313G>A | ||
| ENST00000643729.1:n.2472G>A | ||
| ENST00000643829.1:n.3706G>A | ||
| ENST00000644239.2:n.1886G>A | ||
| ENST00000644881.2:c.13750G>A | ENSP00000495022.2:p.Ala4584Thr | |
| ENST00000645039.2:c.*1601G>A | ENSP00000495220.2:n.*1601G>A | |
| ENST00000645085.1:n.1996G>A | ||
| ENST00000645149.2:c.13603G>A | ENSP00000495944.2:p.Ala4535Thr | |
| ENST00000645978.2:n.943G>A | ||
| ENST00000647143.1:n.2155G>A | ||
| ENST00000647204.2:n.3856G>A | ||
| ENST00000647366.1:n.7304G>A | ||
| ENST00000679720.1:c.13750G>A | ENSP00000505938.1:p.Ala4584Thr | |
| ENST00000679910.1:c.*4832G>A | ENSP00000506521.1:n.*4832G>A | |
| ENST00000680120.1:c.*509G>A | ENSP00000504863.1:n.*509G>A | |
| ENST00000680178.1:n.2210G>A | ||
| ENST00000680200.1:c.*3009G>A | ENSP00000506166.1:n.*3009G>A | |
| ENST00000680313.1:c.*496G>A | ENSP00000506208.1:n.*496G>A | |
| ENST00000680423.1:c.*5481G>A | ENSP00000505483.1:n.*5481G>A | |
| ENST00000680715.1:c.*1040G>A | ENSP00000505332.1:n.*1040G>A | |
| ENST00000681066.1:c.*1773G>A | ENSP00000506344.1:n.*1773G>A | |
| ENST00000681283.1:c.*2462G>A | ENSP00000505667.1:n.*2462G>A | |
| ENST00000681536.1:c.*6949G>A | ENSP00000505821.1:n.*6949G>A | |
| ENST00000681574.1:c.13750G>A | ENSP00000505523.1:p.Ala4584Thr | |
| ENST00000681822.1:c.*234G>A | ENSP00000505744.1:n.*234G>A | |
| ENST00000360184.8:c.13750G>A | ENSP00000348965.4:p.Ala4584Thr | |
| ENST00000555062.1:n.931G>A | ||
| NM_001376.4:c.13750G>A | NP_001367.2:p.Ala4584Thr | |
| NM_001376.5:c.13750G>A MANE Select | NP_001367.2:p.Ala4584Thr |