Linked Data
ClinVar Variation Id:
1306305
dbSNP Id:
rs756044021
ExAC:
3:70014295 G / A
gnomAD v2:
3-70014295-G-A
gnomAD v3:
3-69965144-G-A
gnomAD v4:
3-69965144-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.69965144G>A , CM000665.2:g.69965144G>A | GRCh38 |
| NC_000003.11:g.70014295G>A , CM000665.1:g.70014295G>A | GRCh37 |
| NC_000003.10:g.70096985G>A | NCBI36 |
| NG_011631.1:g.230663G>A , LRG_776:g.230663G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000314589.11:c.1411G>A | ENSP00000324443.5:p.Val471Ile | |
| ENST00000687384.1:c.1408G>A | ENSP00000510225.1:p.Val470Ile | |
| ENST00000689390.1:n.1633G>A | ||
| ENST00000693031.1:c.1384G>A | ENSP00000509845.1:p.Val462Ile | |
| ENST00000693549.1:c.*222G>A | ENSP00000509358.1:n.*222G>A | |
| ENST00000314589.10:c.1411G>A | ENSP00000324443.5:p.Val471Ile | |
| ENST00000352241.9:c.1477G>A MANE Select | ENSP00000295600.8:p.Val493Ile | |
| ENST00000394351.9:c.1156G>A MANE Plus Clinical | ENSP00000377880.3:p.Val386Ile | |
| ENST00000448226.9:c.1456G>A | ENSP00000391803.3:p.Val486Ile | |
| ENST00000642352.1:c.1459G>A | ENSP00000494105.1:p.Val487Ile | |
| ENST00000314557.10:c.1138G>A | ENSP00000324246.6:p.Val380Ile | |
| ENST00000314589.9:c.1411G>A | ENSP00000324443.5:p.Val471Ile | |
| ENST00000328528.10:c.1456G>A | ENSP00000327867.6:p.Val486Ile | |
| ENST00000352241.8:c.1459G>A | ENSP00000295600.7:p.Val487Ile | |
| ENST00000394351.7:c.1156G>A | ENSP00000377880.3:p.Val386Ile | |
| ENST00000448226.6:c.1477G>A | ENSP00000391803.2:p.Val493Ile | |
| ENST00000472437.5:c.1303G>A | ENSP00000418845.1:p.Val435Ile | |
| ENST00000478490.5:c.*803G>A | ENSP00000433487.1:n.*803G>A | |
| ENST00000531774.1:c.970G>A | ENSP00000435909.1:p.Val324Ile | |
| NM_000248.3:c.1156G>A , LRG_776t1:c.1156G>A | NP_000239.1:p.Val386Ile | |
| NM_001184967.1:c.1303G>A | NP_001171896.1:p.Val435Ile | |
| NM_006722.2:c.1456G>A | NP_006713.1:p.Val486Ile | |
| NM_198158.2:c.1138G>A | NP_937801.1:p.Val380Ile | |
| NM_198159.2:c.1459G>A | NP_937802.1:p.Val487Ile | |
| NM_198177.2:c.1411G>A | NP_937820.1:p.Val471Ile | |
| NM_198178.2:c.970G>A | NP_937821.2:p.Val324Ile | |
| XM_005264754.1:c.1477G>A | XP_005264811.1:p.Val493Ile | |
| XM_005264755.2:c.1429G>A | XP_005264812.1:p.Val477Ile | |
| XM_006713164.2:c.1321G>A | XP_006713227.1:p.Val441Ile | |
| XM_011533722.1:c.1474G>A | XP_011532024.1:p.Val492Ile | |
| XM_011533723.1:c.1426G>A | XP_011532025.1:p.Val476Ile | |
| XM_011533724.1:c.1321G>A | XP_011532026.1:p.Val441Ile | |
| XM_011533725.1:c.1309G>A | XP_011532027.1:p.Val437Ile | |
| XM_011533726.1:c.1291G>A | XP_011532028.1:p.Val431Ile | |
| NM_001354604.1:c.1477G>A | NP_001341533.1:p.Val493Ile | |
| NM_001354605.1:c.1474G>A | NP_001341534.1:p.Val492Ile | |
| NM_001354606.1:c.1456G>A | NP_001341535.1:p.Val486Ile | |
| NM_001354607.1:c.1408G>A | NP_001341536.1:p.Val470Ile | |
| NM_001354608.1:c.1303G>A | NP_001341537.1:p.Val435Ile | |
| NM_001184967.2:c.1303G>A | NP_001171896.1:p.Val435Ile | |
| NM_001354604.2:c.1477G>A MANE Select | NP_001341533.1:p.Val493Ile | |
| NM_001354605.2:c.1474G>A | NP_001341534.1:p.Val492Ile | |
| NM_001354606.2:c.1456G>A | NP_001341535.1:p.Val486Ile | |
| NM_001354607.2:c.1408G>A | NP_001341536.1:p.Val470Ile | |
| NM_001354608.2:c.1303G>A | NP_001341537.1:p.Val435Ile | |
| NM_198158.3:c.1138G>A | NP_937801.1:p.Val380Ile | |
| NM_198159.3:c.1459G>A | NP_937802.1:p.Val487Ile | |
| NM_198177.3:c.1411G>A | NP_937820.1:p.Val471Ile | |
| NM_198178.3:c.970G>A | NP_937821.2:p.Val324Ile | |
| NM_000248.4:c.1156G>A MANE Plus Clinical | NP_000239.1:p.Val386Ile | |
| NM_006722.3:c.1456G>A | NP_006713.1:p.Val486Ile |