Linked Data
dbSNP Id:
rs370371509
ExAC:
3:194325150 G / T
gnomAD v2:
3-194325150-G-T
gnomAD v3:
3-194604421-G-T
gnomAD v4:
3-194604421-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.194604421G>T , CM000665.2:g.194604421G>T | GRCh38 |
| NC_000003.11:g.194325150G>T , CM000665.1:g.194325150G>T | GRCh37 |
| NC_000003.10:g.195806439G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000347147.9:c.1042C>A MANE Select | ENSP00000333355.6:p.Pro348Thr | |
| ENST00000347147.8:c.1042C>A | ENSP00000333355.6:p.Pro348Thr | |
| ENST00000381975.7:c.1038C>A | ENSP00000371402.3:p.Cys346Ter | |
| ENST00000392432.6:c.1183C>A | ENSP00000376227.2:p.Pro395Thr | |
| ENST00000419280.5:c.*338C>A | ENSP00000414077.1:n.*338C>A | |
| ENST00000429560.1:c.234C>A | ENSP00000403053.1:p.Cys78Ter | |
| ENST00000432352.5:c.316C>A | ENSP00000409963.1:p.Pro106Thr | |
| ENST00000452358.5:c.541C>A | ENSP00000414333.1:p.Pro181Thr | |
| ENST00000467284.1:n.88C>A | ||
| ENST00000473092.5:c.1042C>A | ENSP00000418674.1:p.Pro348Thr | |
| ENST00000477651.5:n.806C>A | ||
| NM_001011655.2:c.1042C>A | NP_001011655.1:p.Pro348Thr | |
| NM_001166305.1:c.1183C>A | NP_001159777.1:p.Pro395Thr | |
| NM_001166306.1:c.1038C>A | NP_001159778.1:p.Cys346Ter | |
| NM_138399.4:c.1042C>A | NP_612408.3:p.Pro348Thr | |
| XM_005269371.3:c.1042C>A | XP_005269428.1:p.Pro348Thr | |
| XM_011513318.1:c.1192C>A | XP_011511620.1:p.Pro398Thr | |
| XM_011513319.1:c.1129C>A | XP_011511621.1:p.Pro377Thr | |
| XM_011513320.1:c.1240C>A | XP_011511622.1:p.Pro414Thr | |
| XM_011513321.1:c.1108C>A | XP_011511623.1:p.Pro370Thr | |
| XM_011513322.1:c.1099C>A | XP_011511624.1:p.Pro367Thr | |
| XM_011513323.1:c.937C>A | XP_011511625.1:p.Pro313Thr | |
| XM_005269371.4:c.1042C>A | XP_005269428.1:p.Pro348Thr | |
| XM_011513318.2:c.1192C>A | XP_011511620.1:p.Pro398Thr | |
| XM_011513319.2:c.1129C>A | XP_011511621.1:p.Pro377Thr | |
| XM_011513320.2:c.1240C>A | XP_011511622.1:p.Pro414Thr | |
| XM_011513321.2:c.1108C>A | XP_011511623.1:p.Pro370Thr | |
| XM_011513322.2:c.1099C>A | XP_011511624.1:p.Pro367Thr | |
| XM_017007517.1:c.1051C>A | XP_016863006.1:p.Pro351Thr | |
| XM_017007518.1:c.1051C>A | XP_016863007.1:p.Pro351Thr | |
| NM_001011655.3:c.1042C>A MANE Select | NP_001011655.1:p.Pro348Thr | |
| NM_001166305.2:c.1183C>A | NP_001159777.1:p.Pro395Thr | |
| NM_001166306.2:c.1038C>A | NP_001159778.1:p.Cys346Ter | |
| NM_138399.5:c.1042C>A | NP_612408.3:p.Pro348Thr |