Linked Data
dbSNP Id:
rs1277836850
gnomAD v2:
3-194325099-A-G
gnomAD v3:
3-194604370-A-G
gnomAD v4:
3-194604370-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.194604370A>G , CM000665.2:g.194604370A>G | GRCh38 |
| NC_000003.11:g.194325099A>G , CM000665.1:g.194325099A>G | GRCh37 |
| NC_000003.10:g.195806388A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000347147.9:c.1093T>C MANE Select | ENSP00000333355.6:p.Ser365Pro | |
| ENST00000347147.8:c.1093T>C | ENSP00000333355.6:p.Ser365Pro | |
| ENST00000381975.7:c.1089T>C | ENSP00000371402.3:p.Arg363= | |
| ENST00000392432.6:c.1234T>C | ENSP00000376227.2:p.Ser412Pro | |
| ENST00000419280.5:c.*389T>C | ENSP00000414077.1:n.*389T>C | |
| ENST00000429560.1:c.285T>C | ENSP00000403053.1:p.Arg95= | |
| ENST00000432352.5:c.367T>C | ENSP00000409963.1:p.Ser123Pro | |
| ENST00000452358.5:c.592T>C | ENSP00000414333.1:p.Ser198Pro | |
| ENST00000467284.1:n.139T>C | ||
| ENST00000473092.5:c.1093T>C | ENSP00000418674.1:p.Ser365Pro | |
| ENST00000477651.5:n.857T>C | ||
| NM_001011655.2:c.1093T>C | NP_001011655.1:p.Ser365Pro | |
| NM_001166305.1:c.1234T>C | NP_001159777.1:p.Ser412Pro | |
| NM_001166306.1:c.1089T>C | NP_001159778.1:p.Arg363= | |
| NM_138399.4:c.1093T>C | NP_612408.3:p.Ser365Pro | |
| XM_005269371.3:c.1093T>C | XP_005269428.1:p.Ser365Pro | |
| XM_011513318.1:c.1243T>C | XP_011511620.1:p.Ser415Pro | |
| XM_011513319.1:c.1180T>C | XP_011511621.1:p.Ser394Pro | |
| XM_011513320.1:c.1291T>C | XP_011511622.1:p.Ser431Pro | |
| XM_011513321.1:c.1159T>C | XP_011511623.1:p.Ser387Pro | |
| XM_011513322.1:c.1150T>C | XP_011511624.1:p.Ser384Pro | |
| XM_011513323.1:c.988T>C | XP_011511625.1:p.Ser330Pro | |
| XM_005269371.4:c.1093T>C | XP_005269428.1:p.Ser365Pro | |
| XM_011513318.2:c.1243T>C | XP_011511620.1:p.Ser415Pro | |
| XM_011513319.2:c.1180T>C | XP_011511621.1:p.Ser394Pro | |
| XM_011513320.2:c.1291T>C | XP_011511622.1:p.Ser431Pro | |
| XM_011513321.2:c.1159T>C | XP_011511623.1:p.Ser387Pro | |
| XM_011513322.2:c.1150T>C | XP_011511624.1:p.Ser384Pro | |
| XM_017007517.1:c.1102T>C | XP_016863006.1:p.Ser368Pro | |
| XM_017007518.1:c.1102T>C | XP_016863007.1:p.Ser368Pro | |
| NM_001011655.3:c.1093T>C MANE Select | NP_001011655.1:p.Ser365Pro | |
| NM_001166305.2:c.1234T>C | NP_001159777.1:p.Ser412Pro | |
| NM_001166306.2:c.1089T>C | NP_001159778.1:p.Arg363= | |
| NM_138399.5:c.1093T>C | NP_612408.3:p.Ser365Pro |