Linked Data
ClinVar Variation Id:
380403
dbSNP Id:
rs149496322
ExAC:
14:102500421 C / A
gnomAD v2:
14-102500421-C-A
gnomAD v3:
14-102034084-C-A
gnomAD v4:
14-102034084-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.102034084C>A , CM000676.2:g.102034084C>A | GRCh38 |
| NC_000014.8:g.102500421C>A , CM000676.1:g.102500421C>A | GRCh37 |
| NC_000014.7:g.101570174C>A | NCBI36 |
| NG_008777.1:g.74557C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684561.1:c.*1981C>A | ENSP00000506816.1:n.*1981C>A | |
| ENST00000360184.10:c.10522C>A MANE Select | ENSP00000348965.4:p.Leu3508Ile | |
| ENST00000643437.1:n.476C>A | ||
| ENST00000643508.2:c.10522C>A | ENSP00000495528.2:p.Leu3508Ile | |
| ENST00000643722.1:n.1145C>A | ||
| ENST00000643829.1:n.351C>A | ||
| ENST00000644881.2:c.10522C>A | ENSP00000495022.2:p.Leu3508Ile | |
| ENST00000645039.2:c.10522C>A | ENSP00000495220.2:p.Leu3508Ile | |
| ENST00000645149.2:c.10522C>A | ENSP00000495944.2:p.Leu3508Ile | |
| ENST00000645697.1:n.1185C>A | ||
| ENST00000647307.1:n.1229C>A | ||
| ENST00000647366.1:n.4076C>A | ||
| ENST00000679486.1:c.10522C>A | ENSP00000506688.1:p.Leu3508Ile | |
| ENST00000679629.1:c.10522C>A | ENSP00000505589.1:p.Leu3508Ile | |
| ENST00000679720.1:c.10522C>A | ENSP00000505938.1:p.Leu3508Ile | |
| ENST00000679910.1:c.*1604C>A | ENSP00000506521.1:n.*1604C>A | |
| ENST00000680120.1:c.10522C>A | ENSP00000504863.1:p.Leu3508Ile | |
| ENST00000680137.1:c.10522C>A | ENSP00000505294.1:p.Leu3508Ile | |
| ENST00000680200.1:c.10522C>A | ENSP00000506166.1:p.Leu3508Ile | |
| ENST00000680313.1:c.10522C>A | ENSP00000506208.1:p.Leu3508Ile | |
| ENST00000680423.1:c.*2253C>A | ENSP00000505483.1:n.*2253C>A | |
| ENST00000680715.1:c.10522C>A | ENSP00000505332.1:p.Leu3508Ile | |
| ENST00000680874.1:c.10522C>A | ENSP00000504911.1:p.Leu3508Ile | |
| ENST00000681010.1:c.10522C>A | ENSP00000505201.1:p.Leu3508Ile | |
| ENST00000681066.1:c.10522C>A | ENSP00000506344.1:p.Leu3508Ile | |
| ENST00000681123.1:c.10522C>A | ENSP00000506124.1:p.Leu3508Ile | |
| ENST00000681283.1:c.10522C>A | ENSP00000505667.1:p.Leu3508Ile | |
| ENST00000681536.1:c.*3721C>A | ENSP00000505821.1:n.*3721C>A | |
| ENST00000681574.1:c.10522C>A | ENSP00000505523.1:p.Leu3508Ile | |
| ENST00000681822.1:c.10522C>A | ENSP00000505744.1:p.Leu3508Ile | |
| ENST00000360184.8:c.10522C>A | ENSP00000348965.4:p.Leu3508Ile | |
| ENST00000556791.1:n.446C>A | ||
| NM_001376.4:c.10522C>A | NP_001367.2:p.Leu3508Ile | |
| NM_001376.5:c.10522C>A MANE Select | NP_001367.2:p.Leu3508Ile |