Linked Data
dbSNP Id:
rs766152657
ExAC:
3:194325090 G / T
gnomAD v2:
3-194325090-G-T
gnomAD v4:
3-194604361-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.194604361G>T , CM000665.2:g.194604361G>T | GRCh38 |
| NC_000003.11:g.194325090G>T , CM000665.1:g.194325090G>T | GRCh37 |
| NC_000003.10:g.195806379G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000347147.9:c.1102C>A MANE Select | ENSP00000333355.6:p.Pro368Thr | |
| ENST00000347147.8:c.1102C>A | ENSP00000333355.6:p.Pro368Thr | |
| ENST00000381975.7:c.1098C>A | ENSP00000371402.3:p.Leu366= | |
| ENST00000392432.6:c.1243C>A | ENSP00000376227.2:p.Pro415Thr | |
| ENST00000419280.5:c.*398C>A | ENSP00000414077.1:n.*398C>A | |
| ENST00000429560.1:c.294C>A | ENSP00000403053.1:p.Leu98= | |
| ENST00000432352.5:c.376C>A | ENSP00000409963.1:p.Pro126Thr | |
| ENST00000452358.5:c.601C>A | ENSP00000414333.1:p.Pro201Thr | |
| ENST00000467284.1:n.148C>A | ||
| ENST00000473092.5:c.1102C>A | ENSP00000418674.1:p.Pro368Thr | |
| ENST00000477651.5:n.866C>A | ||
| NM_001011655.2:c.1102C>A | NP_001011655.1:p.Pro368Thr | |
| NM_001166305.1:c.1243C>A | NP_001159777.1:p.Pro415Thr | |
| NM_001166306.1:c.1098C>A | NP_001159778.1:p.Leu366= | |
| NM_138399.4:c.1102C>A | NP_612408.3:p.Pro368Thr | |
| XM_005269371.3:c.1102C>A | XP_005269428.1:p.Pro368Thr | |
| XM_011513318.1:c.1252C>A | XP_011511620.1:p.Pro418Thr | |
| XM_011513319.1:c.1189C>A | XP_011511621.1:p.Pro397Thr | |
| XM_011513320.1:c.1300C>A | XP_011511622.1:p.Pro434Thr | |
| XM_011513321.1:c.1168C>A | XP_011511623.1:p.Pro390Thr | |
| XM_011513322.1:c.1159C>A | XP_011511624.1:p.Pro387Thr | |
| XM_011513323.1:c.997C>A | XP_011511625.1:p.Pro333Thr | |
| XM_005269371.4:c.1102C>A | XP_005269428.1:p.Pro368Thr | |
| XM_011513318.2:c.1252C>A | XP_011511620.1:p.Pro418Thr | |
| XM_011513319.2:c.1189C>A | XP_011511621.1:p.Pro397Thr | |
| XM_011513320.2:c.1300C>A | XP_011511622.1:p.Pro434Thr | |
| XM_011513321.2:c.1168C>A | XP_011511623.1:p.Pro390Thr | |
| XM_011513322.2:c.1159C>A | XP_011511624.1:p.Pro387Thr | |
| XM_017007517.1:c.1111C>A | XP_016863006.1:p.Pro371Thr | |
| XM_017007518.1:c.1111C>A | XP_016863007.1:p.Pro371Thr | |
| NM_001011655.3:c.1102C>A MANE Select | NP_001011655.1:p.Pro368Thr | |
| NM_001166305.2:c.1243C>A | NP_001159777.1:p.Pro415Thr | |
| NM_001166306.2:c.1098C>A | NP_001159778.1:p.Leu366= | |
| NM_138399.5:c.1102C>A | NP_612408.3:p.Pro368Thr |