Linked Data
ClinVar Variation Id:
434989
dbSNP Id:
rs1187943520
gnomAD v2:
14-102493810-A-G
gnomAD v3:
14-102027473-A-G
gnomAD v4:
14-102027473-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.102027473A>G , CM000676.2:g.102027473A>G | GRCh38 |
| NC_000014.8:g.102493810A>G , CM000676.1:g.102493810A>G | GRCh37 |
| NC_000014.7:g.101563563A>G | NCBI36 |
| NG_008777.1:g.67946A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684561.1:c.*436A>G | ENSP00000506816.1:n.*436A>G | |
| ENST00000360184.10:c.8977A>G MANE Select | ENSP00000348965.4:p.Ile2993Val | |
| ENST00000643508.2:c.8977A>G | ENSP00000495528.2:p.Ile2993Val | |
| ENST00000644881.2:c.8977A>G | ENSP00000495022.2:p.Ile2993Val | |
| ENST00000645039.2:c.8977A>G | ENSP00000495220.2:p.Ile2993Val | |
| ENST00000645149.2:c.8977A>G | ENSP00000495944.2:p.Ile2993Val | |
| ENST00000647119.1:n.432A>G | ||
| ENST00000647366.1:n.2531A>G | ||
| ENST00000679486.1:c.8977A>G | ENSP00000506688.1:p.Ile2993Val | |
| ENST00000679629.1:c.8977A>G | ENSP00000505589.1:p.Ile2993Val | |
| ENST00000679720.1:c.8977A>G | ENSP00000505938.1:p.Ile2993Val | |
| ENST00000679910.1:c.*59A>G | ENSP00000506521.1:n.*59A>G | |
| ENST00000680120.1:c.8977A>G | ENSP00000504863.1:p.Ile2993Val | |
| ENST00000680137.1:c.8977A>G | ENSP00000505294.1:p.Ile2993Val | |
| ENST00000680200.1:c.8977A>G | ENSP00000506166.1:p.Ile2993Val | |
| ENST00000680313.1:c.8977A>G | ENSP00000506208.1:p.Ile2993Val | |
| ENST00000680423.1:c.*708A>G | ENSP00000505483.1:n.*708A>G | |
| ENST00000680715.1:c.8977A>G | ENSP00000505332.1:p.Ile2993Val | |
| ENST00000680808.1:c.*36A>G | ENSP00000506446.1:n.*36A>G | |
| ENST00000680874.1:c.8977A>G | ENSP00000504911.1:p.Ile2993Val | |
| ENST00000681010.1:c.8977A>G | ENSP00000505201.1:p.Ile2993Val | |
| ENST00000681066.1:c.8977A>G | ENSP00000506344.1:p.Ile2993Val | |
| ENST00000681123.1:c.8977A>G | ENSP00000506124.1:p.Ile2993Val | |
| ENST00000681283.1:c.8977A>G | ENSP00000505667.1:p.Ile2993Val | |
| ENST00000681311.1:c.*450A>G | ENSP00000505519.1:n.*450A>G | |
| ENST00000681536.1:c.*2176A>G | ENSP00000505821.1:n.*2176A>G | |
| ENST00000681574.1:c.8977A>G | ENSP00000505523.1:p.Ile2993Val | |
| ENST00000681822.1:c.8977A>G | ENSP00000505744.1:p.Ile2993Val | |
| ENST00000360184.8:c.8977A>G | ENSP00000348965.4:p.Ile2993Val | |
| NM_001376.4:c.8977A>G | NP_001367.2:p.Ile2993Val | |
| NM_001376.5:c.8977A>G MANE Select | NP_001367.2:p.Ile2993Val |