Linked Data
ClinVar Variation Id:
246573
dbSNP Id:
rs770525695
ExAC:
14:102506975 C / A
gnomAD v2:
14-102506975-C-A
gnomAD v4:
14-102040638-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.102040638C>A , CM000676.2:g.102040638C>A | GRCh38 |
| NC_000014.8:g.102506975C>A , CM000676.1:g.102506975C>A | GRCh37 |
| NC_000014.7:g.101576728C>A | NCBI36 |
| NG_008777.1:g.81111C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684561.1:c.*3365C>A | ENSP00000506816.1:n.*3365C>A | |
| ENST00000360184.10:c.11906C>A MANE Select | ENSP00000348965.4:p.Thr3969Asn | |
| ENST00000553701.1:n.347-3869G>T | ||
| ENST00000556139.2:n.458C>A | ||
| ENST00000556499.3:n.139C>A | ||
| ENST00000557242.1:n.329-3869G>T | ||
| ENST00000557551.1:n.111+3655G>T | ||
| ENST00000643437.1:n.1860C>A | ||
| ENST00000643829.1:n.1735C>A | ||
| ENST00000644794.1:n.2025C>A | ||
| ENST00000644881.2:c.11906C>A | ENSP00000495022.2:p.Thr3969Asn | |
| ENST00000645039.2:c.11690+906C>A | ENSP00000495220.2:n.11690+906C>A | |
| ENST00000645085.1:n.187+906C>A | ||
| ENST00000645149.2:c.11759C>A | ENSP00000495944.2:p.Thr3920Asn | |
| ENST00000645697.1:n.2569C>A | ||
| ENST00000647204.2:n.1147C>A | ||
| ENST00000647366.1:n.5460C>A | ||
| ENST00000679486.1:c.11906C>A | ENSP00000506688.1:p.Thr3969Asn | |
| ENST00000679629.1:c.11731C>A | ENSP00000505589.1:p.Leu3911Met | |
| ENST00000679720.1:c.11906C>A | ENSP00000505938.1:p.Thr3969Asn | |
| ENST00000679910.1:c.*2988C>A | ENSP00000506521.1:n.*2988C>A | |
| ENST00000680120.1:c.11906C>A | ENSP00000504863.1:p.Thr3969Asn | |
| ENST00000680200.1:c.*1165C>A | ENSP00000506166.1:n.*1165C>A | |
| ENST00000680313.1:c.11906C>A | ENSP00000506208.1:p.Thr3969Asn | |
| ENST00000680423.1:c.*3637C>A | ENSP00000505483.1:n.*3637C>A | |
| ENST00000680715.1:c.11906C>A | ENSP00000505332.1:p.Thr3969Asn | |
| ENST00000681010.1:c.11906C>A | ENSP00000505201.1:p.Thr3969Asn | |
| ENST00000681066.1:c.11865+228C>A | ENSP00000506344.1:n.11865+228C>A | |
| ENST00000681123.1:c.11935C>A | ENSP00000506124.1:p.Leu3979Met | |
| ENST00000681283.1:c.*618C>A | ENSP00000505667.1:n.*618C>A | |
| ENST00000681536.1:c.*5105C>A | ENSP00000505821.1:n.*5105C>A | |
| ENST00000681574.1:c.11906C>A | ENSP00000505523.1:p.Thr3969Asn | |
| ENST00000681822.1:c.11906C>A | ENSP00000505744.1:p.Thr3969Asn | |
| ENST00000360184.8:c.11906C>A | ENSP00000348965.4:p.Thr3969Asn | |
| ENST00000556139.1:n.458C>A | ||
| ENST00000556499.1:n.64C>A | ||
| NM_001376.4:c.11906C>A | NP_001367.2:p.Thr3969Asn | |
| NM_001376.5:c.11906C>A MANE Select | NP_001367.2:p.Thr3969Asn |