Linked Data
dbSNP Id:
rs747688871
ExAC:
3:101476670 C / T
gnomAD v2:
3-101476670-C-T
gnomAD v4:
3-101757826-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.101757826C>T , CM000665.2:g.101757826C>T | GRCh38 |
| NC_000003.11:g.101476670C>T , CM000665.1:g.101476670C>T | GRCh37 |
| NC_000003.10:g.102959360C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000465011.2:c.*855C>T | ENSP00000419009.1:n.*855C>T | |
| ENST00000467655.2:c.*307C>T | ENSP00000418547.2:n.*307C>T | |
| ENST00000704365.1:c.1220C>T | ENSP00000515873.1:p.Pro407Leu | |
| ENST00000704366.1:c.1118C>T | ENSP00000515874.1:p.Pro373Leu | |
| ENST00000704367.1:c.941C>T | ENSP00000515875.1:p.Pro314Leu | |
| ENST00000704368.1:n.1713C>T | ||
| ENST00000704369.1:c.734C>T | ENSP00000515876.1:p.Pro245Leu | |
| ENST00000704370.1:c.1214C>T | ENSP00000515877.1:p.Pro405Leu | |
| ENST00000704372.1:n.1574C>T | ||
| ENST00000704444.1:c.1004C>T | ENSP00000515896.1:p.Pro335Leu | |
| ENST00000704445.1:c.872C>T | ENSP00000515897.1:p.Pro291Leu | |
| ENST00000704446.1:c.1048+630C>T | ENSP00000515898.1:n.1048+630C>T | |
| ENST00000341893.8:c.1220C>T MANE Select | ENSP00000342510.3:p.Pro407Leu | |
| ENST00000341893.7:c.1220C>T | ENSP00000342510.3:p.Pro407Leu | |
| ENST00000467655.1:c.835C>T | ENSP00000418547.1:n.835C>T | |
| ENST00000489172.5:n.1202C>T | ||
| ENST00000494050.5:c.1043C>T | ENSP00000418185.1:p.Pro348Leu | |
| NM_001303401.1:c.1043C>T | NP_001290330.1:p.Pro348Leu | |
| NM_024548.3:c.1220C>T | NP_078824.2:p.Pro407Leu | |
| XM_006713743.2:c.1118C>T | XP_006713806.1:p.Pro373Leu | |
| XM_011513125.1:c.1004C>T | XP_011511427.1:p.Pro335Leu | |
| XM_011513126.1:c.1004C>T | XP_011511428.1:p.Pro335Leu | |
| XM_011513127.1:c.872C>T | XP_011511429.1:p.Pro291Leu | |
| XM_006713743.4:c.1118C>T | XP_006713806.1:p.Pro373Leu | |
| XM_017007178.2:c.941C>T | XP_016862667.1:p.Pro314Leu | |
| NM_024548.4:c.1220C>T MANE Select | NP_078824.2:p.Pro407Leu | |
| NM_001303401.2:c.1043C>T | NP_001290330.1:p.Pro348Leu |