Linked Data
ClinVar Variation Id:
540006
dbSNP Id:
rs143479340
ExAC:
9:130263418 G / A
gnomAD v2:
9-130263418-G-A
gnomAD v3:
9-127501139-G-A
gnomAD v4:
9-127501139-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.127501139G>A , CM000671.2:g.127501139G>A | GRCh38 |
| NC_000009.11:g.130263418G>A , CM000671.1:g.130263418G>A | GRCh37 |
| NC_000009.10:g.129303239G>A | NCBI36 |
| NG_032008.1:g.54654G>A , LRG_373:g.54654G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000300417.11:c.2042G>A MANE Select | ENSP00000300417.6:p.Arg681Gln | |
| ENST00000472068.2:c.*1766G>A | ENSP00000501555.1:n.*1766G>A | |
| ENST00000483302.6:n.2707G>A | ||
| ENST00000498513.6:c.*933G>A | ENSP00000501637.1:n.*933G>A | |
| ENST00000674511.1:n.1641G>A | ||
| ENST00000674516.1:c.*658G>A | ENSP00000502441.1:n.*658G>A | |
| ENST00000674621.1:n.1861-2234G>A | ||
| ENST00000674771.1:c.*685G>A | ENSP00000502627.1:n.*685G>A | |
| ENST00000674784.1:c.*1102G>A | ENSP00000501837.1:n.*1102G>A | |
| ENST00000674970.1:c.*1816G>A | ENSP00000502493.1:n.*1816G>A | |
| ENST00000675012.1:n.1986G>A | ||
| ENST00000675141.1:c.1943G>A | ENSP00000502420.1:p.Arg648Gln | |
| ENST00000675198.1:n.1922G>A | ||
| ENST00000675213.1:c.1997G>A | ENSP00000502218.1:p.Arg666Gln | |
| ENST00000675224.1:c.*108G>A | ENSP00000501869.1:n.*108G>A | |
| ENST00000675253.1:c.*714G>A | ENSP00000502557.1:n.*714G>A | |
| ENST00000675445.1:c.*1714G>A | ENSP00000502253.1:n.*1714G>A | |
| ENST00000675448.1:c.2042G>A | ENSP00000502167.1:p.Arg681Gln | |
| ENST00000675521.1:n.1952G>A | ||
| ENST00000675572.1:c.1943G>A | ENSP00000501598.1:p.Arg648Gln | |
| ENST00000675641.1:c.*784G>A | ENSP00000501845.1:n.*784G>A | |
| ENST00000675657.1:c.*655G>A | ENSP00000502002.1:n.*655G>A | |
| ENST00000675662.1:n.1837G>A | ||
| ENST00000675789.1:c.1862G>A | ENSP00000501954.1:p.Arg621Gln | |
| ENST00000675883.1:c.1961G>A | ENSP00000501592.1:p.Arg654Gln | |
| ENST00000675945.1:c.*683G>A | ENSP00000501835.1:n.*683G>A | |
| ENST00000676014.1:c.1985G>A | ENSP00000502058.1:p.Arg662Gln | |
| ENST00000676035.1:n.1704G>A | ||
| ENST00000676106.1:n.2079G>A | ||
| ENST00000676137.1:n.2072G>A | ||
| ENST00000676170.1:c.2123G>A | ENSP00000502177.1:p.Arg708Gln | |
| ENST00000676318.1:c.*2872G>A | ENSP00000502300.1:n.*2872G>A | |
| ENST00000676336.1:c.*655G>A | ENSP00000502686.1:n.*655G>A | |
| ENST00000676349.1:c.*1730G>A | ENSP00000502155.1:n.*1730G>A | |
| ENST00000676399.1:n.1945G>A | ||
| ENST00000676409.1:n.2102G>A | ||
| ENST00000300417.10:c.2042G>A | ENSP00000300417.6:p.Arg681Gln | |
| ENST00000323301.8:c.2042G>A | ENSP00000322937.4:p.Arg681Gln | |
| ENST00000373322.1:c.2042G>A | ENSP00000362419.1:p.Arg681Gln | |
| ENST00000373324.8:c.1961G>A | ENSP00000362421.4:p.Arg654Gln | |
| ENST00000483302.5:n.1264G>A | ||
| NM_001005373.3:c.2042G>A | NP_001005373.1:p.Arg681Gln | |
| NM_001005374.3:c.2042G>A | NP_001005374.1:p.Arg681Gln | |
| NM_001190723.2:c.1961G>A | NP_001177652.1:p.Arg654Gln | |
| NM_138361.5:c.2042G>A , LRG_373t1:c.2042G>A | NP_612370.3:p.Arg681Gln | |
| XM_006717316.2:c.1943G>A | XP_006717379.1:p.Arg648Gln | |
| XM_006717316.4:c.1943G>A | XP_006717379.1:p.Arg648Gln | |
| XM_017015283.1:c.2042G>A | XP_016870772.1:p.Arg681Gln | |
| XM_017015284.2:c.1253G>A | XP_016870773.1:p.Arg418Gln | |
| XR_001746415.2:n.2577G>A | ||
| XR_929874.3:n.2401G>A | ||
| NM_001190723.3:c.1961G>A | NP_001177652.1:p.Arg654Gln | |
| NM_001005373.4:c.2042G>A MANE Select | NP_001005373.1:p.Arg681Gln | |
| NM_001005374.4:c.2042G>A | NP_001005374.1:p.Arg681Gln | |
| NM_001384142.1:c.2042G>A | NP_001371071.1:p.Arg681Gln | |
| NM_001384143.1:c.1943G>A | NP_001371072.1:p.Arg648Gln | |
| NM_001384144.1:c.1253G>A | NP_001371073.1:p.Arg418Gln | |
| NR_168891.1:n.2571G>A | ||
| NR_168892.1:n.2395G>A |