Linked Data
ClinVar Variation Id:
539768
dbSNP Id:
rs750353606
ExAC:
14:102516826 G / A
gnomAD v2:
14-102516826-G-A
gnomAD v3:
14-102050489-G-A
gnomAD v4:
14-102050489-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.102050489G>A , CM000676.2:g.102050489G>A | GRCh38 |
| NC_000014.8:g.102516826G>A , CM000676.1:g.102516826G>A | GRCh37 |
| NC_000014.7:g.101586579G>A | NCBI36 |
| NG_008777.1:g.90962G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684561.1:c.*5326G>A | ENSP00000506816.1:n.*5326G>A | |
| ENST00000360184.10:c.13867G>A MANE Select | ENSP00000348965.4:p.Asp4623Asn | |
| ENST00000553701.1:n.302C>T | ||
| ENST00000555062.2:n.1071G>A | ||
| ENST00000556229.2:n.2030G>A | ||
| ENST00000557242.1:n.328+2038C>T | ||
| ENST00000643437.1:n.4591G>A | ||
| ENST00000643591.1:n.2666G>A | ||
| ENST00000643729.1:n.2589G>A | ||
| ENST00000643829.1:n.3823G>A | ||
| ENST00000644239.2:n.2003G>A | ||
| ENST00000644881.2:c.*73G>A | ENSP00000495022.2:n.*73G>A | |
| ENST00000645039.2:c.*1718G>A | ENSP00000495220.2:n.*1718G>A | |
| ENST00000645085.1:n.2113G>A | ||
| ENST00000645149.2:c.13720G>A | ENSP00000495944.2:p.Asp4574Asn | |
| ENST00000645978.2:n.1060G>A | ||
| ENST00000647143.1:n.2272G>A | ||
| ENST00000647204.2:n.3973G>A | ||
| ENST00000679720.1:c.13830G>A | ENSP00000505938.1:p.Trp4610Ter | |
| ENST00000679910.1:c.*4949G>A | ENSP00000506521.1:n.*4949G>A | |
| ENST00000680120.1:c.*626G>A | ENSP00000504863.1:n.*626G>A | |
| ENST00000680178.1:n.2563G>A | ||
| ENST00000680200.1:c.*3126G>A | ENSP00000506166.1:n.*3126G>A | |
| ENST00000680313.1:c.*613G>A | ENSP00000506208.1:n.*613G>A | |
| ENST00000680423.1:c.*5598G>A | ENSP00000505483.1:n.*5598G>A | |
| ENST00000680715.1:c.*1157G>A | ENSP00000505332.1:n.*1157G>A | |
| ENST00000681066.1:c.*1890G>A | ENSP00000506344.1:n.*1890G>A | |
| ENST00000681283.1:c.*2579G>A | ENSP00000505667.1:n.*2579G>A | |
| ENST00000681536.1:c.*7066G>A | ENSP00000505821.1:n.*7066G>A | |
| ENST00000681574.1:c.*84G>A | ENSP00000505523.1:n.*84G>A | |
| ENST00000681822.1:c.*351G>A | ENSP00000505744.1:n.*351G>A | |
| ENST00000360184.8:c.13867G>A | ENSP00000348965.4:p.Asp4623Asn | |
| ENST00000555062.1:n.1048G>A | ||
| NM_001376.4:c.13867G>A | NP_001367.2:p.Asp4623Asn | |
| NM_001376.5:c.13867G>A MANE Select | NP_001367.2:p.Asp4623Asn |