Linked Data
ClinVar Variation Id:
246487
dbSNP Id:
rs879254286
gnomAD v2:
14-102516814-A-G
gnomAD v4:
14-102050477-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.102050477A>G , CM000676.2:g.102050477A>G | GRCh38 |
| NC_000014.8:g.102516814A>G , CM000676.1:g.102516814A>G | GRCh37 |
| NC_000014.7:g.101586567A>G | NCBI36 |
| NG_008777.1:g.90950A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684561.1:c.*5314A>G | ENSP00000506816.1:n.*5314A>G | |
| ENST00000360184.10:c.13855A>G MANE Select | ENSP00000348965.4:p.Ile4619Val | |
| ENST00000553701.1:n.314T>C | ||
| ENST00000555062.2:n.1059A>G | ||
| ENST00000556229.2:n.2018A>G | ||
| ENST00000557242.1:n.328+2050T>C | ||
| ENST00000643437.1:n.4579A>G | ||
| ENST00000643591.1:n.2654A>G | ||
| ENST00000643729.1:n.2577A>G | ||
| ENST00000643829.1:n.3811A>G | ||
| ENST00000644239.2:n.1991A>G | ||
| ENST00000644881.2:c.*61A>G | ENSP00000495022.2:n.*61A>G | |
| ENST00000645039.2:c.*1706A>G | ENSP00000495220.2:n.*1706A>G | |
| ENST00000645085.1:n.2101A>G | ||
| ENST00000645149.2:c.13708A>G | ENSP00000495944.2:p.Ile4570Val | |
| ENST00000645978.2:n.1048A>G | ||
| ENST00000647143.1:n.2260A>G | ||
| ENST00000647204.2:n.3961A>G | ||
| ENST00000679720.1:c.13818A>G | ENSP00000505938.1:p.Ser4606= | |
| ENST00000679910.1:c.*4937A>G | ENSP00000506521.1:n.*4937A>G | |
| ENST00000680120.1:c.*614A>G | ENSP00000504863.1:n.*614A>G | |
| ENST00000680178.1:n.2551A>G | ||
| ENST00000680200.1:c.*3114A>G | ENSP00000506166.1:n.*3114A>G | |
| ENST00000680313.1:c.*601A>G | ENSP00000506208.1:n.*601A>G | |
| ENST00000680423.1:c.*5586A>G | ENSP00000505483.1:n.*5586A>G | |
| ENST00000680715.1:c.*1145A>G | ENSP00000505332.1:n.*1145A>G | |
| ENST00000681066.1:c.*1878A>G | ENSP00000506344.1:n.*1878A>G | |
| ENST00000681283.1:c.*2567A>G | ENSP00000505667.1:n.*2567A>G | |
| ENST00000681536.1:c.*7054A>G | ENSP00000505821.1:n.*7054A>G | |
| ENST00000681574.1:c.*72A>G | ENSP00000505523.1:n.*72A>G | |
| ENST00000681822.1:c.*339A>G | ENSP00000505744.1:n.*339A>G | |
| ENST00000360184.8:c.13855A>G | ENSP00000348965.4:p.Ile4619Val | |
| ENST00000555062.1:n.1036A>G | ||
| NM_001376.4:c.13855A>G | NP_001367.2:p.Ile4619Val | |
| NM_001376.5:c.13855A>G MANE Select | NP_001367.2:p.Ile4619Val |