Linked Data
ClinVar Variation Id:
539808
dbSNP Id:
rs146075696
ExAC:
14:102509013 C / T
gnomAD v2:
14-102509013-C-T
gnomAD v3:
14-102042676-C-T
gnomAD v4:
14-102042676-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.102042676C>T , CM000676.2:g.102042676C>T | GRCh38 |
| NC_000014.8:g.102509013C>T , CM000676.1:g.102509013C>T | GRCh37 |
| NC_000014.7:g.101578766C>T | NCBI36 |
| NG_008777.1:g.83149C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684561.1:c.*3900C>T | ENSP00000506816.1:n.*3900C>T | |
| ENST00000360184.10:c.12441C>T MANE Select | ENSP00000348965.4:p.Phe4147= | |
| ENST00000553701.1:n.347-5907G>A | ||
| ENST00000557242.1:n.329-5907G>A | ||
| ENST00000557551.1:n.111+1617G>A | ||
| ENST00000643437.1:n.2395C>T | ||
| ENST00000643591.1:n.234C>T | ||
| ENST00000643829.1:n.2397C>T | ||
| ENST00000644239.2:n.577C>T | ||
| ENST00000644794.1:n.2560C>T | ||
| ENST00000644881.2:c.12441C>T | ENSP00000495022.2:p.Phe4147= | |
| ENST00000644888.1:n.914C>T | ||
| ENST00000645039.2:c.*292C>T | ENSP00000495220.2:n.*292C>T | |
| ENST00000645085.1:n.687C>T | ||
| ENST00000645149.2:c.12294C>T | ENSP00000495944.2:p.Phe4098= | |
| ENST00000645697.1:n.3104C>T | ||
| ENST00000647204.2:n.1777C>T | ||
| ENST00000647366.1:n.5995C>T | ||
| ENST00000679486.1:c.12441C>T | ENSP00000506688.1:p.Phe4147= | |
| ENST00000679720.1:c.12441C>T | ENSP00000505938.1:p.Phe4147= | |
| ENST00000679910.1:c.*3523C>T | ENSP00000506521.1:n.*3523C>T | |
| ENST00000680120.1:c.12441C>T | ENSP00000504863.1:p.Phe4147= | |
| ENST00000680200.1:c.*1700C>T | ENSP00000506166.1:n.*1700C>T | |
| ENST00000680313.1:c.12441C>T | ENSP00000506208.1:p.Phe4147= | |
| ENST00000680423.1:c.*4172C>T | ENSP00000505483.1:n.*4172C>T | |
| ENST00000680715.1:c.12441C>T | ENSP00000505332.1:p.Phe4147= | |
| ENST00000681010.1:c.12441C>T | ENSP00000505201.1:p.Phe4147= | |
| ENST00000681066.1:c.*464C>T | ENSP00000506344.1:n.*464C>T | |
| ENST00000681283.1:c.*1153C>T | ENSP00000505667.1:n.*1153C>T | |
| ENST00000681536.1:c.*5640C>T | ENSP00000505821.1:n.*5640C>T | |
| ENST00000681574.1:c.12441C>T | ENSP00000505523.1:p.Phe4147= | |
| ENST00000681822.1:c.12441C>T | ENSP00000505744.1:p.Phe4147= | |
| ENST00000360184.8:c.12441C>T | ENSP00000348965.4:p.Phe4147= | |
| ENST00000555102.1:n.153C>T | ||
| NM_001376.4:c.12441C>T | NP_001367.2:p.Phe4147= | |
| NM_001376.5:c.12441C>T MANE Select | NP_001367.2:p.Phe4147= |