Linked Data
ClinVar Variation Id:
312668
dbSNP Id:
rs886050377
gnomAD v2:
14-102516442-C-T
gnomAD v3:
14-102050105-C-T
gnomAD v4:
14-102050105-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.102050105C>T , CM000676.2:g.102050105C>T | GRCh38 |
| NC_000014.8:g.102516442C>T , CM000676.1:g.102516442C>T | GRCh37 |
| NC_000014.7:g.101586195C>T | NCBI36 |
| NG_008777.1:g.90578C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684561.1:c.*5178C>T | ENSP00000506816.1:n.*5178C>T | |
| ENST00000360184.10:c.13719C>T MANE Select | ENSP00000348965.4:p.Asn4573= | |
| ENST00000553701.1:n.346+340G>A | ||
| ENST00000555062.2:n.923C>T | ||
| ENST00000556229.2:n.1882C>T | ||
| ENST00000557242.1:n.328+2422G>A | ||
| ENST00000643437.1:n.4443C>T | ||
| ENST00000643591.1:n.2282C>T | ||
| ENST00000643729.1:n.2441C>T | ||
| ENST00000643829.1:n.3675C>T | ||
| ENST00000644239.2:n.1855C>T | ||
| ENST00000644881.2:c.13719C>T | ENSP00000495022.2:p.Asn4573= | |
| ENST00000645039.2:c.*1570C>T | ENSP00000495220.2:n.*1570C>T | |
| ENST00000645085.1:n.1965C>T | ||
| ENST00000645149.2:c.13572C>T | ENSP00000495944.2:p.Asn4524= | |
| ENST00000645978.2:n.912C>T | ||
| ENST00000647143.1:n.2124C>T | ||
| ENST00000647204.2:n.3825C>T | ||
| ENST00000647366.1:n.7273C>T | ||
| ENST00000679720.1:c.13719C>T | ENSP00000505938.1:p.Asn4573= | |
| ENST00000679910.1:c.*4801C>T | ENSP00000506521.1:n.*4801C>T | |
| ENST00000680120.1:c.*478C>T | ENSP00000504863.1:n.*478C>T | |
| ENST00000680178.1:n.2179C>T | ||
| ENST00000680200.1:c.*2978C>T | ENSP00000506166.1:n.*2978C>T | |
| ENST00000680313.1:c.*465C>T | ENSP00000506208.1:n.*465C>T | |
| ENST00000680423.1:c.*5450C>T | ENSP00000505483.1:n.*5450C>T | |
| ENST00000680715.1:c.*1009C>T | ENSP00000505332.1:n.*1009C>T | |
| ENST00000681066.1:c.*1742C>T | ENSP00000506344.1:n.*1742C>T | |
| ENST00000681283.1:c.*2431C>T | ENSP00000505667.1:n.*2431C>T | |
| ENST00000681536.1:c.*6918C>T | ENSP00000505821.1:n.*6918C>T | |
| ENST00000681574.1:c.13719C>T | ENSP00000505523.1:p.Asn4573= | |
| ENST00000681822.1:c.*203C>T | ENSP00000505744.1:n.*203C>T | |
| ENST00000360184.8:c.13719C>T | ENSP00000348965.4:p.Asn4573= | |
| ENST00000555062.1:n.900C>T | ||
| NM_001376.4:c.13719C>T | NP_001367.2:p.Asn4573= | |
| NM_001376.5:c.13719C>T MANE Select | NP_001367.2:p.Asn4573= |