Linked Data
ClinVar Variation Id:
472800
dbSNP Id:
rs140808447
ExAC:
9:130265117 G / A
gnomAD v2:
9-130265117-G-A
gnomAD v3:
9-127502838-G-A
gnomAD v4:
9-127502838-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.127502838G>A , CM000671.2:g.127502838G>A | GRCh38 |
| NC_000009.11:g.130265117G>A , CM000671.1:g.130265117G>A | GRCh37 |
| NC_000009.10:g.129304938G>A | NCBI36 |
| NG_032008.1:g.56353G>A , LRG_373:g.56353G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000300417.11:c.2111G>A MANE Select | ENSP00000300417.6:p.Arg704His | |
| ENST00000483302.6:n.2776G>A | ||
| ENST00000498513.6:c.*1002G>A | ENSP00000501637.1:n.*1002G>A | |
| ENST00000674511.1:n.1710G>A | ||
| ENST00000674516.1:c.*727G>A | ENSP00000502441.1:n.*727G>A | |
| ENST00000674621.1:n.1861-535G>A | ||
| ENST00000674771.1:c.*754G>A | ENSP00000502627.1:n.*754G>A | |
| ENST00000674784.1:c.*1171G>A | ENSP00000501837.1:n.*1171G>A | |
| ENST00000674970.1:c.*1885G>A | ENSP00000502493.1:n.*1885G>A | |
| ENST00000675012.1:n.2055G>A | ||
| ENST00000675141.1:c.2012G>A | ENSP00000502420.1:p.Arg671His | |
| ENST00000675198.1:n.1991G>A | ||
| ENST00000675213.1:c.2066G>A | ENSP00000502218.1:p.Arg689His | |
| ENST00000675224.1:c.*177G>A | ENSP00000501869.1:n.*177G>A | |
| ENST00000675253.1:c.*783G>A | ENSP00000502557.1:n.*783G>A | |
| ENST00000675445.1:c.*1783G>A | ENSP00000502253.1:n.*1783G>A | |
| ENST00000675448.1:c.2111G>A | ENSP00000502167.1:p.Arg704His | |
| ENST00000675521.1:n.2021G>A | ||
| ENST00000675572.1:c.2012G>A | ENSP00000501598.1:p.Arg671His | |
| ENST00000675641.1:c.*853G>A | ENSP00000501845.1:n.*853G>A | |
| ENST00000675657.1:c.*724G>A | ENSP00000502002.1:n.*724G>A | |
| ENST00000675662.1:n.1906G>A | ||
| ENST00000675789.1:c.1931G>A | ENSP00000501954.1:p.Arg644His | |
| ENST00000675883.1:c.2030G>A | ENSP00000501592.1:p.Arg677His | |
| ENST00000675945.1:c.*752G>A | ENSP00000501835.1:n.*752G>A | |
| ENST00000676014.1:c.2054G>A | ENSP00000502058.1:p.Arg685His | |
| ENST00000676035.1:n.1773G>A | ||
| ENST00000676106.1:n.2148G>A | ||
| ENST00000676137.1:n.2141G>A | ||
| ENST00000676170.1:c.2192G>A | ENSP00000502177.1:p.Arg731His | |
| ENST00000676318.1:c.*2941G>A | ENSP00000502300.1:n.*2941G>A | |
| ENST00000676336.1:c.*724G>A | ENSP00000502686.1:n.*724G>A | |
| ENST00000676349.1:c.*1799G>A | ENSP00000502155.1:n.*1799G>A | |
| ENST00000676399.1:n.2014G>A | ||
| ENST00000676409.1:n.2171G>A | ||
| ENST00000300417.10:c.2111G>A | ENSP00000300417.6:p.Arg704His | |
| ENST00000323301.8:c.2111G>A | ENSP00000322937.4:p.Arg704His | |
| ENST00000373322.1:c.2111G>A | ENSP00000362419.1:p.Arg704His | |
| ENST00000373324.8:c.2030G>A | ENSP00000362421.4:p.Arg677His | |
| ENST00000483302.5:n.1333G>A | ||
| NM_001005373.3:c.2111G>A | NP_001005373.1:p.Arg704His | |
| NM_001005374.3:c.2111G>A | NP_001005374.1:p.Arg704His | |
| NM_001190723.2:c.2030G>A | NP_001177652.1:p.Arg677His | |
| NM_138361.5:c.2111G>A , LRG_373t1:c.2111G>A | NP_612370.3:p.Arg704His | |
| XM_006717316.2:c.2012G>A | XP_006717379.1:p.Arg671His | |
| XM_006717316.4:c.2012G>A | XP_006717379.1:p.Arg671His | |
| XM_017015283.1:c.2111G>A | XP_016870772.1:p.Arg704His | |
| XM_017015284.2:c.1322G>A | XP_016870773.1:p.Arg441His | |
| XR_001746415.2:n.2646G>A | ||
| XR_929874.3:n.2470G>A | ||
| NM_001190723.3:c.2030G>A | NP_001177652.1:p.Arg677His | |
| NM_001005373.4:c.2111G>A MANE Select | NP_001005373.1:p.Arg704His | |
| NM_001005374.4:c.2111G>A | NP_001005374.1:p.Arg704His | |
| NM_001384142.1:c.2111G>A | NP_001371071.1:p.Arg704His | |
| NM_001384143.1:c.2012G>A | NP_001371072.1:p.Arg671His | |
| NM_001384144.1:c.1322G>A | NP_001371073.1:p.Arg441His | |
| NR_168891.1:n.2640G>A | ||
| NR_168892.1:n.2464G>A |