Linked Data
ClinVar Variation Id:
346495
dbSNP Id:
rs761038653
ExAC:
3:69988310 A / T
gnomAD v2:
3-69988310-A-T
gnomAD v3:
3-69939159-A-T
gnomAD v4:
3-69939159-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.69939159A>T , CM000665.2:g.69939159A>T | GRCh38 |
| NC_000003.11:g.69988310A>T , CM000665.1:g.69988310A>T | GRCh37 |
| NC_000003.10:g.70071000A>T | NCBI36 |
| NG_011631.1:g.204678A>T , LRG_776:g.204678A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000314589.11:c.596A>T | ENSP00000324443.5:p.His199Leu | |
| ENST00000687384.1:c.593A>T | ENSP00000510225.1:p.His198Leu | |
| ENST00000689390.1:n.818A>T | ||
| ENST00000693031.1:c.569A>T | ENSP00000509845.1:p.His190Leu | |
| ENST00000693549.1:c.596A>T | ENSP00000509358.1:p.His199Leu | |
| ENST00000314589.10:c.596A>T | ENSP00000324443.5:p.His199Leu | |
| ENST00000352241.9:c.644A>T MANE Select | ENSP00000295600.8:p.His215Leu | |
| ENST00000394351.9:c.323A>T MANE Plus Clinical | ENSP00000377880.3:p.His108Leu | |
| ENST00000448226.9:c.641A>T | ENSP00000391803.3:p.His214Leu | |
| ENST00000642352.1:c.644A>T | ENSP00000494105.1:p.His215Leu | |
| ENST00000314557.10:c.323A>T | ENSP00000324246.6:p.His108Leu | |
| ENST00000314589.9:c.596A>T | ENSP00000324443.5:p.His199Leu | |
| ENST00000328528.10:c.641A>T | ENSP00000327867.6:p.His214Leu | |
| ENST00000352241.8:c.644A>T | ENSP00000295600.7:p.His215Leu | |
| ENST00000394351.7:c.323A>T | ENSP00000377880.3:p.His108Leu | |
| ENST00000433517.5:c.320A>T | ENSP00000411389.1:p.His107Leu | |
| ENST00000448226.6:c.644A>T | ENSP00000391803.2:p.His215Leu | |
| ENST00000451708.5:c.596A>T | ENSP00000398639.1:p.His199Leu | |
| ENST00000461014.1:n.634A>T | ||
| ENST00000472437.5:c.488A>T | ENSP00000418845.1:p.His163Leu | |
| ENST00000478490.5:c.310+13A>T | ENSP00000433487.1:n.310+13A>T | |
| ENST00000531774.1:c.155A>T | ENSP00000435909.1:p.His52Leu | |
| NM_000248.3:c.323A>T , LRG_776t1:c.323A>T | NP_000239.1:p.His108Leu | |
| NM_001184967.1:c.488A>T | NP_001171896.1:p.His163Leu | |
| NM_006722.2:c.641A>T | NP_006713.1:p.His214Leu | |
| NM_198158.2:c.323A>T | NP_937801.1:p.His108Leu | |
| NM_198159.2:c.644A>T | NP_937802.1:p.His215Leu | |
| NM_198177.2:c.596A>T | NP_937820.1:p.His199Leu | |
| NM_198178.2:c.155A>T | NP_937821.2:p.His52Leu | |
| XM_005264754.1:c.644A>T | XP_005264811.1:p.His215Leu | |
| XM_005264755.2:c.596A>T | XP_005264812.1:p.His199Leu | |
| XM_006713164.2:c.488A>T | XP_006713227.1:p.His163Leu | |
| XM_011533722.1:c.641A>T | XP_011532024.1:p.His214Leu | |
| XM_011533723.1:c.593A>T | XP_011532025.1:p.His198Leu | |
| XM_011533724.1:c.488A>T | XP_011532026.1:p.His163Leu | |
| XM_011533725.1:c.476A>T | XP_011532027.1:p.His159Leu | |
| XM_011533726.1:c.476A>T | XP_011532028.1:p.His159Leu | |
| NM_001354604.1:c.644A>T | NP_001341533.1:p.His215Leu | |
| NM_001354605.1:c.641A>T | NP_001341534.1:p.His214Leu | |
| NM_001354606.1:c.641A>T | NP_001341535.1:p.His214Leu | |
| NM_001354607.1:c.593A>T | NP_001341536.1:p.His198Leu | |
| NM_001354608.1:c.488A>T | NP_001341537.1:p.His163Leu | |
| NM_001184967.2:c.488A>T | NP_001171896.1:p.His163Leu | |
| NM_001354604.2:c.644A>T MANE Select | NP_001341533.1:p.His215Leu | |
| NM_001354605.2:c.641A>T | NP_001341534.1:p.His214Leu | |
| NM_001354606.2:c.641A>T | NP_001341535.1:p.His214Leu | |
| NM_001354607.2:c.593A>T | NP_001341536.1:p.His198Leu | |
| NM_001354608.2:c.488A>T | NP_001341537.1:p.His163Leu | |
| NM_198158.3:c.323A>T | NP_937801.1:p.His108Leu | |
| NM_198159.3:c.644A>T | NP_937802.1:p.His215Leu | |
| NM_198177.3:c.596A>T | NP_937820.1:p.His199Leu | |
| NM_198178.3:c.155A>T | NP_937821.2:p.His52Leu | |
| NM_000248.4:c.323A>T MANE Plus Clinical | NP_000239.1:p.His108Leu | |
| NM_006722.3:c.641A>T | NP_006713.1:p.His214Leu |