Linked Data
ClinVar Variation Id:
2969738
ClinVar RCV Id:
RCV003821872
dbSNP Id:
rs767173679
ExAC:
3:101476538 C / T
gnomAD v2:
3-101476538-C-T
gnomAD v4:
3-101757694-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.101757694C>T , CM000665.2:g.101757694C>T | GRCh38 |
| NC_000003.11:g.101476538C>T , CM000665.1:g.101476538C>T | GRCh37 |
| NC_000003.10:g.102959228C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000465011.2:c.*723C>T | ENSP00000419009.1:n.*723C>T | |
| ENST00000467655.2:c.*175C>T | ENSP00000418547.2:n.*175C>T | |
| ENST00000704365.1:c.1088C>T | ENSP00000515873.1:p.Ala363Val | |
| ENST00000704366.1:c.986C>T | ENSP00000515874.1:p.Ala329Val | |
| ENST00000704367.1:c.926-117C>T | ENSP00000515875.1:n.926-117C>T | |
| ENST00000704368.1:n.1581C>T | ||
| ENST00000704369.1:c.602C>T | ENSP00000515876.1:p.Ala201Val | |
| ENST00000704370.1:c.1082C>T | ENSP00000515877.1:p.Ala361Val | |
| ENST00000704372.1:n.1442C>T | ||
| ENST00000704444.1:c.872C>T | ENSP00000515896.1:p.Ala291Val | |
| ENST00000704445.1:c.740C>T | ENSP00000515897.1:p.Ala247Val | |
| ENST00000704446.1:c.1048+498C>T | ENSP00000515898.1:n.1048+498C>T | |
| ENST00000341893.8:c.1088C>T MANE Select | ENSP00000342510.3:p.Ala363Val | |
| ENST00000341893.7:c.1088C>T | ENSP00000342510.3:p.Ala363Val | |
| ENST00000467655.1:c.703C>T | ENSP00000418547.1:n.703C>T | |
| ENST00000489172.5:n.1070C>T | ||
| ENST00000494050.5:c.1028-117C>T | ENSP00000418185.1:n.1028-117C>T | |
| NM_001303401.1:c.1028-117C>T | NP_001290330.1:n.1028-117C>T | |
| NM_024548.3:c.1088C>T | NP_078824.2:p.Ala363Val | |
| XM_006713743.2:c.986C>T | XP_006713806.1:p.Ala329Val | |
| XM_011513125.1:c.872C>T | XP_011511427.1:p.Ala291Val | |
| XM_011513126.1:c.872C>T | XP_011511428.1:p.Ala291Val | |
| XM_011513127.1:c.740C>T | XP_011511429.1:p.Ala247Val | |
| XM_006713743.4:c.986C>T | XP_006713806.1:p.Ala329Val | |
| XM_017007178.2:c.926-117C>T | XP_016862667.1:n.926-117C>T | |
| NM_024548.4:c.1088C>T MANE Select | NP_078824.2:p.Ala363Val | |
| NM_001303401.2:c.1028-117C>T | NP_001290330.1:n.1028-117C>T |