Linked Data
ClinVar Variation Id:
281266
dbSNP Id:
rs35546990
ExAC:
14:102516092 G / A
gnomAD v2:
14-102516092-G-A
gnomAD v3:
14-102049755-G-A
gnomAD v4:
14-102049755-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.102049755G>A , CM000676.2:g.102049755G>A | GRCh38 |
| NC_000014.8:g.102516092G>A , CM000676.1:g.102516092G>A | GRCh37 |
| NC_000014.7:g.101585845G>A | NCBI36 |
| NG_008777.1:g.90228G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684561.1:c.*5016G>A | ENSP00000506816.1:n.*5016G>A | |
| ENST00000360184.10:c.13557G>A MANE Select | ENSP00000348965.4:p.Ala4519= | |
| ENST00000553701.1:n.346+690C>T | ||
| ENST00000555062.2:n.761G>A | ||
| ENST00000556229.2:n.1720G>A | ||
| ENST00000557242.1:n.328+2772C>T | ||
| ENST00000643437.1:n.4281G>A | ||
| ENST00000643591.1:n.2120G>A | ||
| ENST00000643729.1:n.2091G>A | ||
| ENST00000643829.1:n.3513G>A | ||
| ENST00000644239.2:n.1693G>A | ||
| ENST00000644881.2:c.13557G>A | ENSP00000495022.2:p.Ala4519= | |
| ENST00000645039.2:c.*1408G>A | ENSP00000495220.2:n.*1408G>A | |
| ENST00000645085.1:n.1803G>A | ||
| ENST00000645149.2:c.13410G>A | ENSP00000495944.2:p.Ala4470= | |
| ENST00000645978.2:n.750G>A | ||
| ENST00000647143.1:n.1962G>A | ||
| ENST00000647204.2:n.3663G>A | ||
| ENST00000647366.1:n.7111G>A | ||
| ENST00000679720.1:c.13557G>A | ENSP00000505938.1:p.Ala4519= | |
| ENST00000679910.1:c.*4639G>A | ENSP00000506521.1:n.*4639G>A | |
| ENST00000680120.1:c.*316G>A | ENSP00000504863.1:n.*316G>A | |
| ENST00000680178.1:n.2017G>A | ||
| ENST00000680200.1:c.*2816G>A | ENSP00000506166.1:n.*2816G>A | |
| ENST00000680313.1:c.*303G>A | ENSP00000506208.1:n.*303G>A | |
| ENST00000680423.1:c.*5288G>A | ENSP00000505483.1:n.*5288G>A | |
| ENST00000680715.1:c.*847G>A | ENSP00000505332.1:n.*847G>A | |
| ENST00000681066.1:c.*1580G>A | ENSP00000506344.1:n.*1580G>A | |
| ENST00000681283.1:c.*2269G>A | ENSP00000505667.1:n.*2269G>A | |
| ENST00000681536.1:c.*6756G>A | ENSP00000505821.1:n.*6756G>A | |
| ENST00000681574.1:c.13557G>A | ENSP00000505523.1:p.Ala4519= | |
| ENST00000681822.1:c.*41G>A | ENSP00000505744.1:n.*41G>A | |
| ENST00000360184.8:c.13557G>A | ENSP00000348965.4:p.Ala4519= | |
| ENST00000555062.1:n.738G>A | ||
| NM_001376.4:c.13557G>A | NP_001367.2:p.Ala4519= | |
| NM_001376.5:c.13557G>A MANE Select | NP_001367.2:p.Ala4519= |