Linked Data
ClinVar Variation Id:
2099416
ClinVar RCV Id:
RCV003021712
dbSNP Id:
rs769972649
ExAC:
3:70014014 C / T
gnomAD v2:
3-70014014-C-T
gnomAD v4:
3-69964863-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.69964863C>T , CM000665.2:g.69964863C>T | GRCh38 |
| NC_000003.11:g.70014014C>T , CM000665.1:g.70014014C>T | GRCh37 |
| NC_000003.10:g.70096704C>T | NCBI36 |
| NG_011631.1:g.230382C>T , LRG_776:g.230382C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000314589.11:c.1130C>T | ENSP00000324443.5:p.Ala377Val | |
| ENST00000687384.1:c.1127C>T | ENSP00000510225.1:p.Ala376Val | |
| ENST00000689390.1:n.1352C>T | ||
| ENST00000693031.1:c.1103C>T | ENSP00000509845.1:p.Ala368Val | |
| ENST00000693549.1:c.1114-51C>T | ENSP00000509358.1:n.1114-51C>T | |
| ENST00000314589.10:c.1130C>T | ENSP00000324443.5:p.Ala377Val | |
| ENST00000352241.9:c.1196C>T MANE Select | ENSP00000295600.8:p.Ala399Val | |
| ENST00000394351.9:c.875C>T MANE Plus Clinical | ENSP00000377880.3:p.Ala292Val | |
| ENST00000448226.9:c.1175C>T | ENSP00000391803.3:p.Ala392Val | |
| ENST00000642352.1:c.1178C>T | ENSP00000494105.1:p.Ala393Val | |
| ENST00000314557.10:c.857C>T | ENSP00000324246.6:p.Ala286Val | |
| ENST00000314589.9:c.1130C>T | ENSP00000324443.5:p.Ala377Val | |
| ENST00000328528.10:c.1175C>T | ENSP00000327867.6:p.Ala392Val | |
| ENST00000352241.8:c.1178C>T | ENSP00000295600.7:p.Ala393Val | |
| ENST00000394351.7:c.875C>T | ENSP00000377880.3:p.Ala292Val | |
| ENST00000448226.6:c.1196C>T | ENSP00000391803.2:p.Ala399Val | |
| ENST00000472437.5:c.1022C>T | ENSP00000418845.1:p.Ala341Val | |
| ENST00000478490.5:c.*522C>T | ENSP00000433487.1:n.*522C>T | |
| ENST00000531774.1:c.689C>T | ENSP00000435909.1:p.Ala230Val | |
| NM_000248.3:c.875C>T , LRG_776t1:c.875C>T | NP_000239.1:p.Ala292Val | |
| NM_001184967.1:c.1022C>T | NP_001171896.1:p.Ala341Val | |
| NM_006722.2:c.1175C>T | NP_006713.1:p.Ala392Val | |
| NM_198158.2:c.857C>T | NP_937801.1:p.Ala286Val | |
| NM_198159.2:c.1178C>T | NP_937802.1:p.Ala393Val | |
| NM_198177.2:c.1130C>T | NP_937820.1:p.Ala377Val | |
| NM_198178.2:c.689C>T | NP_937821.2:p.Ala230Val | |
| XM_005264754.1:c.1196C>T | XP_005264811.1:p.Ala399Val | |
| XM_005264755.2:c.1148C>T | XP_005264812.1:p.Ala383Val | |
| XM_006713164.2:c.1040C>T | XP_006713227.1:p.Ala347Val | |
| XM_011533722.1:c.1193C>T | XP_011532024.1:p.Ala398Val | |
| XM_011533723.1:c.1145C>T | XP_011532025.1:p.Ala382Val | |
| XM_011533724.1:c.1040C>T | XP_011532026.1:p.Ala347Val | |
| XM_011533725.1:c.1028C>T | XP_011532027.1:p.Ala343Val | |
| XM_011533726.1:c.1010C>T | XP_011532028.1:p.Ala337Val | |
| NM_001354604.1:c.1196C>T | NP_001341533.1:p.Ala399Val | |
| NM_001354605.1:c.1193C>T | NP_001341534.1:p.Ala398Val | |
| NM_001354606.1:c.1175C>T | NP_001341535.1:p.Ala392Val | |
| NM_001354607.1:c.1127C>T | NP_001341536.1:p.Ala376Val | |
| NM_001354608.1:c.1022C>T | NP_001341537.1:p.Ala341Val | |
| NM_001184967.2:c.1022C>T | NP_001171896.1:p.Ala341Val | |
| NM_001354604.2:c.1196C>T MANE Select | NP_001341533.1:p.Ala399Val | |
| NM_001354605.2:c.1193C>T | NP_001341534.1:p.Ala398Val | |
| NM_001354606.2:c.1175C>T | NP_001341535.1:p.Ala392Val | |
| NM_001354607.2:c.1127C>T | NP_001341536.1:p.Ala376Val | |
| NM_001354608.2:c.1022C>T | NP_001341537.1:p.Ala341Val | |
| NM_198158.3:c.857C>T | NP_937801.1:p.Ala286Val | |
| NM_198159.3:c.1178C>T | NP_937802.1:p.Ala393Val | |
| NM_198177.3:c.1130C>T | NP_937820.1:p.Ala377Val | |
| NM_198178.3:c.689C>T | NP_937821.2:p.Ala230Val | |
| NM_000248.4:c.875C>T MANE Plus Clinical | NP_000239.1:p.Ala292Val | |
| NM_006722.3:c.1175C>T | NP_006713.1:p.Ala392Val |