Linked Data
ClinVar Variation Id:
365017
dbSNP Id:
rs563259179
ExAC:
9:130236145 G / A
gnomAD v2:
9-130236145-G-A
gnomAD v3:
9-127473866-G-A
gnomAD v4:
9-127473866-G-A
COSMIC:
COSM4699345
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.127473866G>A , CM000671.2:g.127473866G>A | GRCh38 |
| NC_000009.11:g.130236145G>A , CM000671.1:g.130236145G>A | GRCh37 |
| NC_000009.10:g.129275966G>A | NCBI36 |
| NG_032008.1:g.27381G>A , LRG_373:g.27381G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000300417.11:c.685G>A MANE Select | ENSP00000300417.6:p.Glu229Lys | |
| ENST00000472068.2:c.*413G>A | ENSP00000501555.1:n.*413G>A | |
| ENST00000498513.6:c.-63G>A | ENSP00000501637.1:n.-63G>A | |
| ENST00000674511.1:n.565G>A | ||
| ENST00000674516.1:c.685G>A | ENSP00000502441.1:p.Glu229Lys | |
| ENST00000674621.1:n.591G>A | ||
| ENST00000674771.1:c.685G>A | ENSP00000502627.1:p.Glu229Lys | |
| ENST00000674784.1:c.685G>A | ENSP00000501837.1:p.Glu229Lys | |
| ENST00000674970.1:c.*459G>A | ENSP00000502493.1:n.*459G>A | |
| ENST00000675012.1:n.565G>A | ||
| ENST00000675141.1:c.685G>A | ENSP00000502420.1:p.Glu229Lys | |
| ENST00000675198.1:n.587G>A | ||
| ENST00000675213.1:c.640G>A | ENSP00000502218.1:p.Glu214Lys | |
| ENST00000675224.1:c.685G>A | ENSP00000501869.1:p.Glu229Lys | |
| ENST00000675253.1:c.685G>A | ENSP00000502557.1:p.Glu229Lys | |
| ENST00000675445.1:c.*357G>A | ENSP00000502253.1:n.*357G>A | |
| ENST00000675448.1:c.685G>A | ENSP00000502167.1:p.Glu229Lys | |
| ENST00000675521.1:n.537G>A | ||
| ENST00000675572.1:c.685G>A | ENSP00000501598.1:p.Glu229Lys | |
| ENST00000675641.1:c.685G>A | ENSP00000501845.1:p.Glu229Lys | |
| ENST00000675657.1:c.685G>A | ENSP00000502002.1:p.Glu229Lys | |
| ENST00000675662.1:n.578G>A | ||
| ENST00000675789.1:c.685G>A | ENSP00000501954.1:p.Glu229Lys | |
| ENST00000675883.1:c.685G>A | ENSP00000501592.1:p.Glu229Lys | |
| ENST00000675945.1:c.685G>A | ENSP00000501835.1:p.Glu229Lys | |
| ENST00000676014.1:c.628G>A | ENSP00000502058.1:p.Glu210Lys | |
| ENST00000676035.1:n.446G>A | ||
| ENST00000676106.1:n.490G>A | ||
| ENST00000676137.1:n.576G>A | ||
| ENST00000676170.1:c.685G>A | ENSP00000502177.1:p.Glu229Lys | |
| ENST00000676318.1:c.685G>A | ENSP00000502300.1:p.Glu229Lys | |
| ENST00000676336.1:c.529-5068G>A | ENSP00000502686.1:n.529-5068G>A | |
| ENST00000676349.1:c.*459G>A | ENSP00000502155.1:n.*459G>A | |
| ENST00000676399.1:n.583G>A | ||
| ENST00000676409.1:n.564G>A | ||
| ENST00000300417.10:c.685G>A | ENSP00000300417.6:p.Glu229Lys | |
| ENST00000323301.8:c.685G>A | ENSP00000322937.4:p.Glu229Lys | |
| ENST00000373322.1:c.685G>A | ENSP00000362419.1:p.Glu229Lys | |
| ENST00000373324.8:c.685G>A | ENSP00000362421.4:p.Glu229Lys | |
| NM_001005373.3:c.685G>A | NP_001005373.1:p.Glu229Lys | |
| NM_001005374.3:c.685G>A | NP_001005374.1:p.Glu229Lys | |
| NM_001190723.2:c.685G>A | NP_001177652.1:p.Glu229Lys | |
| NM_138361.5:c.685G>A , LRG_373t1:c.685G>A | NP_612370.3:p.Glu229Lys | |
| XM_006717316.2:c.685G>A | XP_006717379.1:p.Glu229Lys | |
| XR_929874.1:n.1057G>A | ||
| XM_006717316.4:c.685G>A | XP_006717379.1:p.Glu229Lys | |
| XM_017015283.1:c.685G>A | XP_016870772.1:p.Glu229Lys | |
| XM_017015284.2:c.-100G>A | XP_016870773.1:n.-100G>A | |
| XR_001746415.2:n.1039G>A | ||
| XR_929874.3:n.1039G>A | ||
| NM_001190723.3:c.685G>A | NP_001177652.1:p.Glu229Lys | |
| NM_001005373.4:c.685G>A MANE Select | NP_001005373.1:p.Glu229Lys | |
| NM_001005374.4:c.685G>A | NP_001005374.1:p.Glu229Lys | |
| NM_001384142.1:c.685G>A | NP_001371071.1:p.Glu229Lys | |
| NM_001384143.1:c.685G>A | NP_001371072.1:p.Glu229Lys | |
| NM_001384144.1:c.-100G>A | NP_001371073.1:n.-100G>A | |
| NR_168891.1:n.1033G>A | ||
| NR_168892.1:n.1033G>A |