Linked Data
ClinVar Variation Id:
246514
dbSNP Id:
rs768668529
ExAC:
14:102500778 A / C
gnomAD v2:
14-102500778-A-C
gnomAD v3:
14-102034441-A-C
gnomAD v4:
14-102034441-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.102034441A>C , CM000676.2:g.102034441A>C | GRCh38 |
| NC_000014.8:g.102500778A>C , CM000676.1:g.102500778A>C | GRCh37 |
| NC_000014.7:g.101570531A>C | NCBI36 |
| NG_008777.1:g.74914A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684561.1:c.*2202A>C | ENSP00000506816.1:n.*2202A>C | |
| ENST00000360184.10:c.10743A>C MANE Select | ENSP00000348965.4:p.Lys3581Asn | |
| ENST00000643437.1:n.697A>C | ||
| ENST00000643508.2:c.10743A>C | ENSP00000495528.2:p.Lys3581Asn | |
| ENST00000643722.1:n.1502A>C | ||
| ENST00000643829.1:n.572A>C | ||
| ENST00000644881.2:c.10743A>C | ENSP00000495022.2:p.Lys3581Asn | |
| ENST00000645039.2:c.10743A>C | ENSP00000495220.2:p.Lys3581Asn | |
| ENST00000645149.2:c.10743A>C | ENSP00000495944.2:p.Lys3581Asn | |
| ENST00000645697.1:n.1406A>C | ||
| ENST00000647307.1:n.1450A>C | ||
| ENST00000647366.1:n.4297A>C | ||
| ENST00000679486.1:c.10743A>C | ENSP00000506688.1:p.Lys3581Asn | |
| ENST00000679629.1:c.10743A>C | ENSP00000505589.1:p.Lys3581Asn | |
| ENST00000679720.1:c.10743A>C | ENSP00000505938.1:p.Lys3581Asn | |
| ENST00000679910.1:c.*1825A>C | ENSP00000506521.1:n.*1825A>C | |
| ENST00000680120.1:c.10743A>C | ENSP00000504863.1:p.Lys3581Asn | |
| ENST00000680137.1:c.10743A>C | ENSP00000505294.1:p.Lys3581Asn | |
| ENST00000680200.1:c.*2A>C | ENSP00000506166.1:n.*2A>C | |
| ENST00000680313.1:c.10743A>C | ENSP00000506208.1:p.Lys3581Asn | |
| ENST00000680423.1:c.*2474A>C | ENSP00000505483.1:n.*2474A>C | |
| ENST00000680715.1:c.10743A>C | ENSP00000505332.1:p.Lys3581Asn | |
| ENST00000680874.1:c.10626+253A>C | ENSP00000504911.1:n.10626+253A>C | |
| ENST00000681010.1:c.10743A>C | ENSP00000505201.1:p.Lys3581Asn | |
| ENST00000681066.1:c.10743A>C | ENSP00000506344.1:p.Lys3581Asn | |
| ENST00000681123.1:c.10743A>C | ENSP00000506124.1:p.Lys3581Asn | |
| ENST00000681283.1:c.10743A>C | ENSP00000505667.1:p.Lys3581Asn | |
| ENST00000681536.1:c.*3942A>C | ENSP00000505821.1:n.*3942A>C | |
| ENST00000681574.1:c.10743A>C | ENSP00000505523.1:p.Lys3581Asn | |
| ENST00000681822.1:c.10743A>C | ENSP00000505744.1:p.Lys3581Asn | |
| ENST00000360184.8:c.10743A>C | ENSP00000348965.4:p.Lys3581Asn | |
| ENST00000553423.1:c.169A>C | ||
| ENST00000556791.1:n.667A>C | ||
| NM_001376.4:c.10743A>C | NP_001367.2:p.Lys3581Asn | |
| NM_001376.5:c.10743A>C MANE Select | NP_001367.2:p.Lys3581Asn |