Linked Data
ClinVar Variation Id:
210862
dbSNP Id:
rs369351359
gnomAD v2:
14-102505808-A-G
gnomAD v3:
14-102039471-A-G
gnomAD v4:
14-102039471-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.102039471A>G , CM000676.2:g.102039471A>G | GRCh38 |
| NC_000014.8:g.102505808A>G , CM000676.1:g.102505808A>G | GRCh37 |
| NC_000014.7:g.101575561A>G | NCBI36 |
| NG_008777.1:g.79944A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684561.1:c.*2979A>G | ENSP00000506816.1:n.*2979A>G | |
| ENST00000360184.10:c.11520A>G MANE Select | ENSP00000348965.4:p.Leu3840= | |
| ENST00000553701.1:n.347-2702T>C | ||
| ENST00000557242.1:n.329-2702T>C | ||
| ENST00000557551.1:n.112-2702T>C | ||
| ENST00000643437.1:n.1474A>G | ||
| ENST00000643829.1:n.1349A>G | ||
| ENST00000644794.1:n.1639A>G | ||
| ENST00000644881.2:c.11520A>G | ENSP00000495022.2:p.Leu3840= | |
| ENST00000645039.2:c.11520A>G | ENSP00000495220.2:p.Leu3840= | |
| ENST00000645149.2:c.11373A>G | ENSP00000495944.2:p.Leu3791= | |
| ENST00000645697.1:n.2183A>G | ||
| ENST00000647204.2:n.761A>G | ||
| ENST00000647366.1:n.5074A>G | ||
| ENST00000679486.1:c.11520A>G | ENSP00000506688.1:p.Leu3840= | |
| ENST00000679629.1:c.11520A>G | ENSP00000505589.1:p.Leu3840= | |
| ENST00000679720.1:c.11520A>G | ENSP00000505938.1:p.Leu3840= | |
| ENST00000679910.1:c.*2602A>G | ENSP00000506521.1:n.*2602A>G | |
| ENST00000680120.1:c.11520A>G | ENSP00000504863.1:p.Leu3840= | |
| ENST00000680200.1:c.*779A>G | ENSP00000506166.1:n.*779A>G | |
| ENST00000680313.1:c.11520A>G | ENSP00000506208.1:p.Leu3840= | |
| ENST00000680423.1:c.*3251A>G | ENSP00000505483.1:n.*3251A>G | |
| ENST00000680715.1:c.11520A>G | ENSP00000505332.1:p.Leu3840= | |
| ENST00000681010.1:c.11520A>G | ENSP00000505201.1:p.Leu3840= | |
| ENST00000681066.1:c.11520A>G | ENSP00000506344.1:p.Leu3840= | |
| ENST00000681123.1:c.11520A>G | ENSP00000506124.1:p.Leu3840= | |
| ENST00000681283.1:c.*232A>G | ENSP00000505667.1:n.*232A>G | |
| ENST00000681536.1:c.*4719A>G | ENSP00000505821.1:n.*4719A>G | |
| ENST00000681574.1:c.11520A>G | ENSP00000505523.1:p.Leu3840= | |
| ENST00000681822.1:c.11520A>G | ENSP00000505744.1:p.Leu3840= | |
| ENST00000360184.8:c.11520A>G | ENSP00000348965.4:p.Leu3840= | |
| NM_001376.4:c.11520A>G | NP_001367.2:p.Leu3840= | |
| NM_001376.5:c.11520A>G MANE Select | NP_001367.2:p.Leu3840= |