Linked Data
ClinVar Variation Id:
2071650
ClinVar RCV Id:
RCV002975748
dbSNP Id:
rs150469920
ExAC:
3:101476481 C / T
gnomAD v2:
3-101476481-C-T
gnomAD v3:
3-101757637-C-T
gnomAD v4:
3-101757637-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.101757637C>T , CM000665.2:g.101757637C>T | GRCh38 |
| NC_000003.11:g.101476481C>T , CM000665.1:g.101476481C>T | GRCh37 |
| NC_000003.10:g.102959171C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000465011.2:c.*666C>T | ENSP00000419009.1:n.*666C>T | |
| ENST00000467655.2:c.*118C>T | ENSP00000418547.2:n.*118C>T | |
| ENST00000704365.1:c.1031C>T | ENSP00000515873.1:p.Pro344Leu | |
| ENST00000704366.1:c.929C>T | ENSP00000515874.1:p.Pro310Leu | |
| ENST00000704367.1:c.926-174C>T | ENSP00000515875.1:n.926-174C>T | |
| ENST00000704368.1:n.1524C>T | ||
| ENST00000704369.1:c.545C>T | ENSP00000515876.1:p.Pro182Leu | |
| ENST00000704370.1:c.1025C>T | ENSP00000515877.1:p.Pro342Leu | |
| ENST00000704372.1:n.1385C>T | ||
| ENST00000704444.1:c.815C>T | ENSP00000515896.1:p.Pro272Leu | |
| ENST00000704445.1:c.683C>T | ENSP00000515897.1:p.Pro228Leu | |
| ENST00000704446.1:c.1048+441C>T | ENSP00000515898.1:n.1048+441C>T | |
| ENST00000341893.8:c.1031C>T MANE Select | ENSP00000342510.3:p.Pro344Leu | |
| ENST00000341893.7:c.1031C>T | ENSP00000342510.3:p.Pro344Leu | |
| ENST00000467655.1:c.646C>T | ENSP00000418547.1:n.646C>T | |
| ENST00000489172.5:n.1013C>T | ||
| ENST00000494050.5:c.1028-174C>T | ENSP00000418185.1:n.1028-174C>T | |
| NM_001303401.1:c.1028-174C>T | NP_001290330.1:n.1028-174C>T | |
| NM_024548.3:c.1031C>T | NP_078824.2:p.Pro344Leu | |
| XM_006713743.2:c.929C>T | XP_006713806.1:p.Pro310Leu | |
| XM_011513125.1:c.815C>T | XP_011511427.1:p.Pro272Leu | |
| XM_011513126.1:c.815C>T | XP_011511428.1:p.Pro272Leu | |
| XM_011513127.1:c.683C>T | XP_011511429.1:p.Pro228Leu | |
| XM_006713743.4:c.929C>T | XP_006713806.1:p.Pro310Leu | |
| XM_017007178.2:c.926-174C>T | XP_016862667.1:n.926-174C>T | |
| NM_024548.4:c.1031C>T MANE Select | NP_078824.2:p.Pro344Leu | |
| NM_001303401.2:c.1028-174C>T | NP_001290330.1:n.1028-174C>T |