Linked Data
ClinVar Variation Id:
539824
dbSNP Id:
rs147580834
ExAC:
14:102516505 G / A
gnomAD v2:
14-102516505-G-A
gnomAD v3:
14-102050168-G-A
gnomAD v4:
14-102050168-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.102050168G>A , CM000676.2:g.102050168G>A | GRCh38 |
| NC_000014.8:g.102516505G>A , CM000676.1:g.102516505G>A | GRCh37 |
| NC_000014.7:g.101586258G>A | NCBI36 |
| NG_008777.1:g.90641G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684561.1:c.*5241G>A | ENSP00000506816.1:n.*5241G>A | |
| ENST00000360184.10:c.13782G>A MANE Select | ENSP00000348965.4:p.Lys4594= | |
| ENST00000553701.1:n.346+277C>T | ||
| ENST00000555062.2:n.986G>A | ||
| ENST00000556229.2:n.1945G>A | ||
| ENST00000557242.1:n.328+2359C>T | ||
| ENST00000643437.1:n.4506G>A | ||
| ENST00000643591.1:n.2345G>A | ||
| ENST00000643729.1:n.2504G>A | ||
| ENST00000643829.1:n.3738G>A | ||
| ENST00000644239.2:n.1918G>A | ||
| ENST00000644881.2:c.13782G>A | ENSP00000495022.2:p.Lys4594= | |
| ENST00000645039.2:c.*1633G>A | ENSP00000495220.2:n.*1633G>A | |
| ENST00000645085.1:n.2028G>A | ||
| ENST00000645149.2:c.13635G>A | ENSP00000495944.2:p.Lys4545= | |
| ENST00000645978.2:n.975G>A | ||
| ENST00000647143.1:n.2187G>A | ||
| ENST00000647204.2:n.3888G>A | ||
| ENST00000679720.1:c.13782G>A | ENSP00000505938.1:p.Lys4594= | |
| ENST00000679910.1:c.*4864G>A | ENSP00000506521.1:n.*4864G>A | |
| ENST00000680120.1:c.*541G>A | ENSP00000504863.1:n.*541G>A | |
| ENST00000680178.1:n.2242G>A | ||
| ENST00000680200.1:c.*3041G>A | ENSP00000506166.1:n.*3041G>A | |
| ENST00000680313.1:c.*528G>A | ENSP00000506208.1:n.*528G>A | |
| ENST00000680423.1:c.*5513G>A | ENSP00000505483.1:n.*5513G>A | |
| ENST00000680715.1:c.*1072G>A | ENSP00000505332.1:n.*1072G>A | |
| ENST00000681066.1:c.*1805G>A | ENSP00000506344.1:n.*1805G>A | |
| ENST00000681283.1:c.*2494G>A | ENSP00000505667.1:n.*2494G>A | |
| ENST00000681536.1:c.*6981G>A | ENSP00000505821.1:n.*6981G>A | |
| ENST00000681574.1:c.13782G>A | ENSP00000505523.1:p.Lys4594= | |
| ENST00000681822.1:c.*266G>A | ENSP00000505744.1:n.*266G>A | |
| ENST00000360184.8:c.13782G>A | ENSP00000348965.4:p.Lys4594= | |
| ENST00000555062.1:n.963G>A | ||
| NM_001376.4:c.13782G>A | NP_001367.2:p.Lys4594= | |
| NM_001376.5:c.13782G>A MANE Select | NP_001367.2:p.Lys4594= |