Linked Data
ClinVar Variation Id:
1614931
ClinVar RCV Id:
RCV002078977
dbSNP Id:
rs145072852
ExAC:
3:101476645 C / T
gnomAD v2:
3-101476645-C-T
gnomAD v3:
3-101757801-C-T
gnomAD v4:
3-101757801-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.101757801C>T , CM000665.2:g.101757801C>T | GRCh38 |
| NC_000003.11:g.101476645C>T , CM000665.1:g.101476645C>T | GRCh37 |
| NC_000003.10:g.102959335C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000465011.2:c.*830C>T | ENSP00000419009.1:n.*830C>T | |
| ENST00000467655.2:c.*282C>T | ENSP00000418547.2:n.*282C>T | |
| ENST00000704365.1:c.1195C>T | ENSP00000515873.1:p.Leu399Phe | |
| ENST00000704366.1:c.1093C>T | ENSP00000515874.1:p.Leu365Phe | |
| ENST00000704367.1:c.926-10C>T | ENSP00000515875.1:n.926-10C>T | |
| ENST00000704368.1:n.1688C>T | ||
| ENST00000704369.1:c.709C>T | ENSP00000515876.1:p.Leu237Phe | |
| ENST00000704370.1:c.1189C>T | ENSP00000515877.1:p.Leu397Phe | |
| ENST00000704372.1:n.1549C>T | ||
| ENST00000704444.1:c.979C>T | ENSP00000515896.1:p.Leu327Phe | |
| ENST00000704445.1:c.847C>T | ENSP00000515897.1:p.Leu283Phe | |
| ENST00000704446.1:c.1048+605C>T | ENSP00000515898.1:n.1048+605C>T | |
| ENST00000341893.8:c.1195C>T MANE Select | ENSP00000342510.3:p.Leu399Phe | |
| ENST00000341893.7:c.1195C>T | ENSP00000342510.3:p.Leu399Phe | |
| ENST00000467655.1:c.810C>T | ENSP00000418547.1:n.810C>T | |
| ENST00000489172.5:n.1177C>T | ||
| ENST00000494050.5:c.1028-10C>T | ENSP00000418185.1:n.1028-10C>T | |
| NM_001303401.1:c.1028-10C>T | NP_001290330.1:n.1028-10C>T | |
| NM_024548.3:c.1195C>T | NP_078824.2:p.Leu399Phe | |
| XM_006713743.2:c.1093C>T | XP_006713806.1:p.Leu365Phe | |
| XM_011513125.1:c.979C>T | XP_011511427.1:p.Leu327Phe | |
| XM_011513126.1:c.979C>T | XP_011511428.1:p.Leu327Phe | |
| XM_011513127.1:c.847C>T | XP_011511429.1:p.Leu283Phe | |
| XM_006713743.4:c.1093C>T | XP_006713806.1:p.Leu365Phe | |
| XM_017007178.2:c.926-10C>T | XP_016862667.1:n.926-10C>T | |
| NM_024548.4:c.1195C>T MANE Select | NP_078824.2:p.Leu399Phe | |
| NM_001303401.2:c.1028-10C>T | NP_001290330.1:n.1028-10C>T |