Linked Data
ClinVar Variation Id:
539755
dbSNP Id:
rs201575292
ExAC:
14:102514304 A / G
gnomAD v2:
14-102514304-A-G
gnomAD v3:
14-102047967-A-G
gnomAD v4:
14-102047967-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.102047967A>G , CM000676.2:g.102047967A>G | GRCh38 |
| NC_000014.8:g.102514304A>G , CM000676.1:g.102514304A>G | GRCh37 |
| NC_000014.7:g.101584057A>G | NCBI36 |
| NG_008777.1:g.88440A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684561.1:c.*4616A>G | ENSP00000506816.1:n.*4616A>G | |
| ENST00000360184.10:c.13157A>G MANE Select | ENSP00000348965.4:p.Asn4386Ser | |
| ENST00000553701.1:n.346+2478T>C | ||
| ENST00000555062.2:n.230A>G | ||
| ENST00000556229.2:n.550A>G | ||
| ENST00000557242.1:n.328+4560T>C | ||
| ENST00000643437.1:n.3111A>G | ||
| ENST00000643591.1:n.950A>G | ||
| ENST00000643729.1:n.303A>G | ||
| ENST00000643829.1:n.3113A>G | ||
| ENST00000644239.2:n.1293A>G | ||
| ENST00000644794.1:n.3276A>G | ||
| ENST00000644881.2:c.13157A>G | ENSP00000495022.2:p.Asn4386Ser | |
| ENST00000645039.2:c.*1008A>G | ENSP00000495220.2:n.*1008A>G | |
| ENST00000645085.1:n.1403A>G | ||
| ENST00000645149.2:c.13010A>G | ENSP00000495944.2:p.Asn4337Ser | |
| ENST00000647143.1:n.305A>G | ||
| ENST00000647204.2:n.2493A>G | ||
| ENST00000647366.1:n.6711A>G | ||
| ENST00000679720.1:c.13157A>G | ENSP00000505938.1:p.Asn4386Ser | |
| ENST00000679910.1:c.*4239A>G | ENSP00000506521.1:n.*4239A>G | |
| ENST00000680120.1:c.13157A>G | ENSP00000504863.1:p.Asn4386Ser | |
| ENST00000680178.1:n.229A>G | ||
| ENST00000680200.1:c.*2416A>G | ENSP00000506166.1:n.*2416A>G | |
| ENST00000680313.1:c.13157A>G | ENSP00000506208.1:p.Asn4386Ser | |
| ENST00000680423.1:c.*4888A>G | ENSP00000505483.1:n.*4888A>G | |
| ENST00000680715.1:c.*447A>G | ENSP00000505332.1:n.*447A>G | |
| ENST00000681066.1:c.*1180A>G | ENSP00000506344.1:n.*1180A>G | |
| ENST00000681283.1:c.*1869A>G | ENSP00000505667.1:n.*1869A>G | |
| ENST00000681536.1:c.*6356A>G | ENSP00000505821.1:n.*6356A>G | |
| ENST00000681574.1:c.13157A>G | ENSP00000505523.1:p.Asn4386Ser | |
| ENST00000681822.1:c.13157A>G | ENSP00000505744.1:p.Asn4386Ser | |
| ENST00000360184.8:c.13157A>G | ENSP00000348965.4:p.Asn4386Ser | |
| ENST00000555062.1:n.207A>G | ||
| ENST00000556229.1:n.307A>G | ||
| NM_001376.4:c.13157A>G | NP_001367.2:p.Asn4386Ser | |
| NM_001376.5:c.13157A>G MANE Select | NP_001367.2:p.Asn4386Ser |