Linked Data
ClinVar Variation Id:
408982
dbSNP Id:
rs754437318
ExAC:
14:102509057 G / T
gnomAD v2:
14-102509057-G-T
gnomAD v4:
14-102042720-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.102042720G>T , CM000676.2:g.102042720G>T | GRCh38 |
| NC_000014.8:g.102509057G>T , CM000676.1:g.102509057G>T | GRCh37 |
| NC_000014.7:g.101578810G>T | NCBI36 |
| NG_008777.1:g.83193G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684561.1:c.*3944G>T | ENSP00000506816.1:n.*3944G>T | |
| ENST00000360184.10:c.12485G>T MANE Select | ENSP00000348965.4:p.Ser4162Ile | |
| ENST00000553701.1:n.347-5951C>A | ||
| ENST00000557242.1:n.329-5951C>A | ||
| ENST00000557551.1:n.111+1573C>A | ||
| ENST00000643437.1:n.2439G>T | ||
| ENST00000643591.1:n.278G>T | ||
| ENST00000643829.1:n.2441G>T | ||
| ENST00000644239.2:n.621G>T | ||
| ENST00000644794.1:n.2604G>T | ||
| ENST00000644881.2:c.12485G>T | ENSP00000495022.2:p.Ser4162Ile | |
| ENST00000644888.1:n.958G>T | ||
| ENST00000645039.2:c.*336G>T | ENSP00000495220.2:n.*336G>T | |
| ENST00000645085.1:n.731G>T | ||
| ENST00000645149.2:c.12338G>T | ENSP00000495944.2:p.Ser4113Ile | |
| ENST00000645697.1:n.3148G>T | ||
| ENST00000647204.2:n.1821G>T | ||
| ENST00000647366.1:n.6039G>T | ||
| ENST00000679486.1:c.12485G>T | ENSP00000506688.1:p.Ser4162Ile | |
| ENST00000679720.1:c.12485G>T | ENSP00000505938.1:p.Ser4162Ile | |
| ENST00000679910.1:c.*3567G>T | ENSP00000506521.1:n.*3567G>T | |
| ENST00000680120.1:c.12485G>T | ENSP00000504863.1:p.Ser4162Ile | |
| ENST00000680200.1:c.*1744G>T | ENSP00000506166.1:n.*1744G>T | |
| ENST00000680313.1:c.12485G>T | ENSP00000506208.1:p.Ser4162Ile | |
| ENST00000680423.1:c.*4216G>T | ENSP00000505483.1:n.*4216G>T | |
| ENST00000680715.1:c.12485G>T | ENSP00000505332.1:p.Ser4162Ile | |
| ENST00000681010.1:c.12485G>T | ENSP00000505201.1:p.Ser4162Ile | |
| ENST00000681066.1:c.*508G>T | ENSP00000506344.1:n.*508G>T | |
| ENST00000681283.1:c.*1197G>T | ENSP00000505667.1:n.*1197G>T | |
| ENST00000681536.1:c.*5684G>T | ENSP00000505821.1:n.*5684G>T | |
| ENST00000681574.1:c.12485G>T | ENSP00000505523.1:p.Ser4162Ile | |
| ENST00000681822.1:c.12485G>T | ENSP00000505744.1:p.Ser4162Ile | |
| ENST00000360184.8:c.12485G>T | ENSP00000348965.4:p.Ser4162Ile | |
| ENST00000555102.1:n.197G>T | ||
| NM_001376.4:c.12485G>T | NP_001367.2:p.Ser4162Ile | |
| NM_001376.5:c.12485G>T MANE Select | NP_001367.2:p.Ser4162Ile |