Linked Data
ClinVar Variation Id:
539767
dbSNP Id:
rs200149883
ExAC:
14:102516832 G / A
gnomAD v2:
14-102516832-G-A
gnomAD v3:
14-102050495-G-A
gnomAD v4:
14-102050495-G-A
COSMIC:
COSM3936411
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.102050495G>A , CM000676.2:g.102050495G>A | GRCh38 |
| NC_000014.8:g.102516832G>A , CM000676.1:g.102516832G>A | GRCh37 |
| NC_000014.7:g.101586585G>A | NCBI36 |
| NG_008777.1:g.90968G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684561.1:c.*5332G>A | ENSP00000506816.1:n.*5332G>A | |
| ENST00000360184.10:c.13873G>A MANE Select | ENSP00000348965.4:p.Glu4625Lys | |
| ENST00000553701.1:n.296C>T | ||
| ENST00000555062.2:n.1077G>A | ||
| ENST00000556229.2:n.2036G>A | ||
| ENST00000557242.1:n.328+2032C>T | ||
| ENST00000643437.1:n.4597G>A | ||
| ENST00000643591.1:n.2672G>A | ||
| ENST00000643729.1:n.2595G>A | ||
| ENST00000643829.1:n.3829G>A | ||
| ENST00000644239.2:n.2009G>A | ||
| ENST00000644881.2:c.*79G>A | ENSP00000495022.2:n.*79G>A | |
| ENST00000645039.2:c.*1724G>A | ENSP00000495220.2:n.*1724G>A | |
| ENST00000645085.1:n.2119G>A | ||
| ENST00000645149.2:c.13726G>A | ENSP00000495944.2:p.Glu4576Lys | |
| ENST00000645978.2:n.1066G>A | ||
| ENST00000647143.1:n.2278G>A | ||
| ENST00000647204.2:n.3979G>A | ||
| ENST00000679720.1:c.13836G>A | ENSP00000505938.1:p.Ser4612= | |
| ENST00000679910.1:c.*4955G>A | ENSP00000506521.1:n.*4955G>A | |
| ENST00000680120.1:c.*632G>A | ENSP00000504863.1:n.*632G>A | |
| ENST00000680178.1:n.2569G>A | ||
| ENST00000680200.1:c.*3132G>A | ENSP00000506166.1:n.*3132G>A | |
| ENST00000680313.1:c.*619G>A | ENSP00000506208.1:n.*619G>A | |
| ENST00000680423.1:c.*5604G>A | ENSP00000505483.1:n.*5604G>A | |
| ENST00000680715.1:c.*1163G>A | ENSP00000505332.1:n.*1163G>A | |
| ENST00000681066.1:c.*1896G>A | ENSP00000506344.1:n.*1896G>A | |
| ENST00000681283.1:c.*2585G>A | ENSP00000505667.1:n.*2585G>A | |
| ENST00000681536.1:c.*7072G>A | ENSP00000505821.1:n.*7072G>A | |
| ENST00000681574.1:c.*90G>A | ENSP00000505523.1:n.*90G>A | |
| ENST00000681822.1:c.*357G>A | ENSP00000505744.1:n.*357G>A | |
| ENST00000360184.8:c.13873G>A | ENSP00000348965.4:p.Glu4625Lys | |
| ENST00000555062.1:n.1054G>A | ||
| NM_001376.4:c.13873G>A | NP_001367.2:p.Glu4625Lys | |
| NM_001376.5:c.13873G>A MANE Select | NP_001367.2:p.Glu4625Lys |