Linked Data
ClinVar Variation Id:
434981
dbSNP Id:
rs777098264
ExAC:
14:102514912 C / T
gnomAD v2:
14-102514912-C-T
gnomAD v3:
14-102048575-C-T
gnomAD v4:
14-102048575-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.102048575C>T , CM000676.2:g.102048575C>T | GRCh38 |
| NC_000014.8:g.102514912C>T , CM000676.1:g.102514912C>T | GRCh37 |
| NC_000014.7:g.101584665C>T | NCBI36 |
| NG_008777.1:g.89048C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684561.1:c.*4737C>T | ENSP00000506816.1:n.*4737C>T | |
| ENST00000360184.10:c.13278C>T MANE Select | ENSP00000348965.4:p.Asp4426= | |
| ENST00000553701.1:n.346+1870G>A | ||
| ENST00000555062.2:n.351C>T | ||
| ENST00000556229.2:n.671C>T | ||
| ENST00000557242.1:n.328+3952G>A | ||
| ENST00000643437.1:n.3232C>T | ||
| ENST00000643591.1:n.1071C>T | ||
| ENST00000643729.1:n.911C>T | ||
| ENST00000643829.1:n.3234C>T | ||
| ENST00000644239.2:n.1414C>T | ||
| ENST00000644794.1:n.3884C>T | ||
| ENST00000644881.2:c.13278C>T | ENSP00000495022.2:p.Asp4426= | |
| ENST00000645039.2:c.*1129C>T | ENSP00000495220.2:n.*1129C>T | |
| ENST00000645085.1:n.1524C>T | ||
| ENST00000645149.2:c.13131C>T | ENSP00000495944.2:p.Asp4377= | |
| ENST00000647143.1:n.913C>T | ||
| ENST00000647204.2:n.2614C>T | ||
| ENST00000647366.1:n.6832C>T | ||
| ENST00000679720.1:c.13278C>T | ENSP00000505938.1:p.Asp4426= | |
| ENST00000679910.1:c.*4360C>T | ENSP00000506521.1:n.*4360C>T | |
| ENST00000680120.1:c.*37C>T | ENSP00000504863.1:n.*37C>T | |
| ENST00000680178.1:n.837C>T | ||
| ENST00000680200.1:c.*2537C>T | ENSP00000506166.1:n.*2537C>T | |
| ENST00000680313.1:c.13278C>T | ENSP00000506208.1:p.Asp4426= | |
| ENST00000680423.1:c.*5009C>T | ENSP00000505483.1:n.*5009C>T | |
| ENST00000680715.1:c.*568C>T | ENSP00000505332.1:n.*568C>T | |
| ENST00000681066.1:c.*1301C>T | ENSP00000506344.1:n.*1301C>T | |
| ENST00000681283.1:c.*1990C>T | ENSP00000505667.1:n.*1990C>T | |
| ENST00000681536.1:c.*6477C>T | ENSP00000505821.1:n.*6477C>T | |
| ENST00000681574.1:c.13278C>T | ENSP00000505523.1:p.Asp4426= | |
| ENST00000681822.1:c.13278C>T | ENSP00000505744.1:p.Asp4426= | |
| ENST00000360184.8:c.13278C>T | ENSP00000348965.4:p.Asp4426= | |
| ENST00000555062.1:n.328C>T | ||
| ENST00000556229.1:n.428C>T | ||
| NM_001376.4:c.13278C>T | NP_001367.2:p.Asp4426= | |
| NM_001376.5:c.13278C>T MANE Select | NP_001367.2:p.Asp4426= |