Linked Data
dbSNP Id:
rs1280772204
gnomAD v2:
3-194325078-T-C
gnomAD v3:
3-194604349-T-C
gnomAD v4:
3-194604349-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.194604349T>C , CM000665.2:g.194604349T>C | GRCh38 |
| NC_000003.11:g.194325078T>C , CM000665.1:g.194325078T>C | GRCh37 |
| NC_000003.10:g.195806367T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000347147.9:c.1114A>G MANE Select | ENSP00000333355.6:p.Ile372Val | |
| ENST00000347147.8:c.1114A>G | ENSP00000333355.6:p.Ile372Val | |
| ENST00000381975.7:c.1110A>G | ENSP00000371402.3:p.Ser370= | |
| ENST00000392432.6:c.1255A>G | ENSP00000376227.2:p.Ile419Val | |
| ENST00000419280.5:c.*410A>G | ENSP00000414077.1:n.*410A>G | |
| ENST00000429560.1:c.306A>G | ENSP00000403053.1:p.Ser102= | |
| ENST00000432352.5:c.388A>G | ENSP00000409963.1:p.Ile130Val | |
| ENST00000452358.5:c.613A>G | ENSP00000414333.1:p.Ile205Val | |
| ENST00000467284.1:n.160A>G | ||
| ENST00000473092.5:c.1114A>G | ENSP00000418674.1:p.Ile372Val | |
| ENST00000477651.5:n.878A>G | ||
| NM_001011655.2:c.1114A>G | NP_001011655.1:p.Ile372Val | |
| NM_001166305.1:c.1255A>G | NP_001159777.1:p.Ile419Val | |
| NM_001166306.1:c.1110A>G | NP_001159778.1:p.Ser370= | |
| NM_138399.4:c.1114A>G | NP_612408.3:p.Ile372Val | |
| XM_005269371.3:c.1114A>G | XP_005269428.1:p.Ile372Val | |
| XM_011513318.1:c.1264A>G | XP_011511620.1:p.Ile422Val | |
| XM_011513319.1:c.1201A>G | XP_011511621.1:p.Ile401Val | |
| XM_011513320.1:c.1312A>G | XP_011511622.1:p.Ile438Val | |
| XM_011513321.1:c.1180A>G | XP_011511623.1:p.Ile394Val | |
| XM_011513322.1:c.1171A>G | XP_011511624.1:p.Ile391Val | |
| XM_011513323.1:c.1009A>G | XP_011511625.1:p.Ile337Val | |
| XM_005269371.4:c.1114A>G | XP_005269428.1:p.Ile372Val | |
| XM_011513318.2:c.1264A>G | XP_011511620.1:p.Ile422Val | |
| XM_011513319.2:c.1201A>G | XP_011511621.1:p.Ile401Val | |
| XM_011513320.2:c.1312A>G | XP_011511622.1:p.Ile438Val | |
| XM_011513321.2:c.1180A>G | XP_011511623.1:p.Ile394Val | |
| XM_011513322.2:c.1171A>G | XP_011511624.1:p.Ile391Val | |
| XM_017007517.1:c.1123A>G | XP_016863006.1:p.Ile375Val | |
| XM_017007518.1:c.1123A>G | XP_016863007.1:p.Ile375Val | |
| NM_001011655.3:c.1114A>G MANE Select | NP_001011655.1:p.Ile372Val | |
| NM_001166305.2:c.1255A>G | NP_001159777.1:p.Ile419Val | |
| NM_001166306.2:c.1110A>G | NP_001159778.1:p.Ser370= | |
| NM_138399.5:c.1114A>G | NP_612408.3:p.Ile372Val |