Linked Data
dbSNP Id:
rs745169
ExAC:
3:194325103 G / A
gnomAD v2:
3-194325103-G-A
gnomAD v3:
3-194604374-G-A
gnomAD v4:
3-194604374-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.194604374G>A , CM000665.2:g.194604374G>A | GRCh38 |
| NC_000003.11:g.194325103G>A , CM000665.1:g.194325103G>A | GRCh37 |
| NC_000003.10:g.195806392G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000347147.9:c.1089C>T MANE Select | ENSP00000333355.6:p.Pro363= | |
| ENST00000347147.8:c.1089C>T | ENSP00000333355.6:p.Pro363= | |
| ENST00000381975.7:c.1085C>T | ENSP00000371402.3:p.Pro362Leu | |
| ENST00000392432.6:c.1230C>T | ENSP00000376227.2:p.Pro410= | |
| ENST00000419280.5:c.*385C>T | ENSP00000414077.1:n.*385C>T | |
| ENST00000429560.1:c.281C>T | ENSP00000403053.1:p.Pro94Leu | |
| ENST00000432352.5:c.363C>T | ENSP00000409963.1:p.Pro121= | |
| ENST00000452358.5:c.588C>T | ENSP00000414333.1:p.Pro196= | |
| ENST00000467284.1:n.135C>T | ||
| ENST00000473092.5:c.1089C>T | ENSP00000418674.1:p.Pro363= | |
| ENST00000477651.5:n.853C>T | ||
| NM_001011655.2:c.1089C>T | NP_001011655.1:p.Pro363= | |
| NM_001166305.1:c.1230C>T | NP_001159777.1:p.Pro410= | |
| NM_001166306.1:c.1085C>T | NP_001159778.1:p.Pro362Leu | |
| NM_138399.4:c.1089C>T | NP_612408.3:p.Pro363= | |
| XM_005269371.3:c.1089C>T | XP_005269428.1:p.Pro363= | |
| XM_011513318.1:c.1239C>T | XP_011511620.1:p.Pro413= | |
| XM_011513319.1:c.1176C>T | XP_011511621.1:p.Pro392= | |
| XM_011513320.1:c.1287C>T | XP_011511622.1:p.Pro429= | |
| XM_011513321.1:c.1155C>T | XP_011511623.1:p.Pro385= | |
| XM_011513322.1:c.1146C>T | XP_011511624.1:p.Pro382= | |
| XM_011513323.1:c.984C>T | XP_011511625.1:p.Pro328= | |
| XM_005269371.4:c.1089C>T | XP_005269428.1:p.Pro363= | |
| XM_011513318.2:c.1239C>T | XP_011511620.1:p.Pro413= | |
| XM_011513319.2:c.1176C>T | XP_011511621.1:p.Pro392= | |
| XM_011513320.2:c.1287C>T | XP_011511622.1:p.Pro429= | |
| XM_011513321.2:c.1155C>T | XP_011511623.1:p.Pro385= | |
| XM_011513322.2:c.1146C>T | XP_011511624.1:p.Pro382= | |
| XM_017007517.1:c.1098C>T | XP_016863006.1:p.Pro366= | |
| XM_017007518.1:c.1098C>T | XP_016863007.1:p.Pro366= | |
| NM_001011655.3:c.1089C>T MANE Select | NP_001011655.1:p.Pro363= | |
| NM_001166305.2:c.1230C>T | NP_001159777.1:p.Pro410= | |
| NM_001166306.2:c.1085C>T | NP_001159778.1:p.Pro362Leu | |
| NM_138399.5:c.1089C>T | NP_612408.3:p.Pro363= |