Linked Data
ClinVar Variation Id:
312652
dbSNP Id:
rs201518717
ExAC:
14:102505595 G / A
gnomAD v2:
14-102505595-G-A
gnomAD v3:
14-102039258-G-A
gnomAD v4:
14-102039258-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.102039258G>A , CM000676.2:g.102039258G>A | GRCh38 |
| NC_000014.8:g.102505595G>A , CM000676.1:g.102505595G>A | GRCh37 |
| NC_000014.7:g.101575348G>A | NCBI36 |
| NG_008777.1:g.79731G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684561.1:c.*2919+4G>A | ENSP00000506816.1:n.*2919+4G>A | |
| ENST00000360184.10:c.11460+4G>A MANE Select | ENSP00000348965.4:n.11460+4G>A | |
| ENST00000553701.1:n.347-2489C>T | ||
| ENST00000557242.1:n.329-2489C>T | ||
| ENST00000557551.1:n.112-2489C>T | ||
| ENST00000643437.1:n.1414+4G>A | ||
| ENST00000643829.1:n.1289+4G>A | ||
| ENST00000644794.1:n.1579+4G>A | ||
| ENST00000644881.2:c.11460+4G>A | ENSP00000495022.2:n.11460+4G>A | |
| ENST00000645039.2:c.11460+4G>A | ENSP00000495220.2:n.11460+4G>A | |
| ENST00000645149.2:c.11313+4G>A | ENSP00000495944.2:n.11313+4G>A | |
| ENST00000645697.1:n.2123+4G>A | ||
| ENST00000647204.2:n.701+4G>A | ||
| ENST00000647366.1:n.5014+4G>A | ||
| ENST00000679486.1:c.11460+4G>A | ENSP00000506688.1:n.11460+4G>A | |
| ENST00000679629.1:c.11460+4G>A | ENSP00000505589.1:n.11460+4G>A | |
| ENST00000679720.1:c.11460+4G>A | ENSP00000505938.1:n.11460+4G>A | |
| ENST00000679910.1:c.*2542+4G>A | ENSP00000506521.1:n.*2542+4G>A | |
| ENST00000680120.1:c.11460+4G>A | ENSP00000504863.1:n.11460+4G>A | |
| ENST00000680200.1:c.*719+4G>A | ENSP00000506166.1:n.*719+4G>A | |
| ENST00000680313.1:c.11460+4G>A | ENSP00000506208.1:n.11460+4G>A | |
| ENST00000680423.1:c.*3191+4G>A | ENSP00000505483.1:n.*3191+4G>A | |
| ENST00000680715.1:c.11460+4G>A | ENSP00000505332.1:n.11460+4G>A | |
| ENST00000681010.1:c.11460+4G>A | ENSP00000505201.1:n.11460+4G>A | |
| ENST00000681066.1:c.11460+4G>A | ENSP00000506344.1:n.11460+4G>A | |
| ENST00000681123.1:c.11460+4G>A | ENSP00000506124.1:n.11460+4G>A | |
| ENST00000681283.1:c.*172+4G>A | ENSP00000505667.1:n.*172+4G>A | |
| ENST00000681536.1:c.*4659+4G>A | ENSP00000505821.1:n.*4659+4G>A | |
| ENST00000681574.1:c.11460+4G>A | ENSP00000505523.1:n.11460+4G>A | |
| ENST00000681822.1:c.11460+4G>A | ENSP00000505744.1:n.11460+4G>A | |
| ENST00000360184.8:c.11460+4G>A | ENSP00000348965.4:n.11460+4G>A | |
| NM_001376.4:c.11460+4G>A | NP_001367.2:n.11460+4G>A | |
| NM_001376.5:c.11460+4G>A MANE Select | NP_001367.2:n.11460+4G>A |