Linked Data
ClinVar Variation Id:
14486
ClinVar RCV Id:
RCV000015575
RCV000041318
RCV000057299
RCV000190399
RCV000459624
RCV000754814
RCV000763258
RCV001179839
RCV001822996
RCV002390111
RCV004532361
dbSNP Id:
rs11575937
ExAC:
1:156106776 G / A
gnomAD v2:
1-156106776-G-A
gnomAD v3:
1-156136985-G-A
gnomAD v4:
1-156136985-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.156136985G>A , CM000663.2:g.156136985G>A | GRCh38 |
| NC_000001.10:g.156106776G>A , CM000663.1:g.156106776G>A | GRCh37 |
| NC_000001.9:g.154373400G>A | NCBI36 |
| NG_008692.2:g.59413G>A , LRG_254:g.59413G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504687.7:c.887G>A | ENSP00000426535.3:p.Arg296Gln | |
| ENST00000459904.2:n.693G>A | ||
| ENST00000498722.3:n.677G>A | ||
| ENST00000682650.1:c.1445G>A | ENSP00000506904.1:p.Arg482Gln | |
| ENST00000683032.1:c.1445G>A | ENSP00000506771.1:p.Arg482Gln | |
| ENST00000684195.1:c.1445G>A | ENSP00000508220.1:p.Arg482Gln | |
| ENST00000361308.9:c.1445G>A | ENSP00000355292.6:p.Arg482Gln | |
| ENST00000368300.9:c.1445G>A MANE Select | ENSP00000357283.4:p.Arg482Gln | |
| ENST00000496738.6:n.1820G>A | ||
| ENST00000674518.1:c.*795G>A | ENSP00000502261.1:n.*795G>A | |
| ENST00000674600.1:c.*1244G>A | ENSP00000501666.1:n.*1244G>A | |
| ENST00000674720.1:c.*7G>A | ENSP00000502798.1:n.*7G>A | |
| ENST00000675431.1:n.1138G>A | ||
| ENST00000675455.1:c.*1245G>A | ENSP00000501795.1:n.*1245G>A | |
| ENST00000675667.1:c.1445G>A | ENSP00000501803.1:p.Arg482Gln | |
| ENST00000675874.1:c.*916G>A | ENSP00000501851.1:n.*916G>A | |
| ENST00000675881.1:c.*456G>A | ENSP00000501670.1:n.*456G>A | |
| ENST00000675939.1:c.1445G>A | ENSP00000502256.1:p.Arg482Gln | |
| ENST00000675989.1:n.2304G>A | ||
| ENST00000676208.1:c.*548G>A | ENSP00000502468.1:n.*548G>A | |
| ENST00000676283.1:n.1820G>A | ||
| ENST00000676385.2:c.1445G>A | ENSP00000502091.1:p.Arg482Gln | |
| ENST00000676434.1:c.*456G>A | ENSP00000501648.1:n.*456G>A | |
| ENST00000677389.1:c.1445G>A MANE Plus Clinical | ENSP00000503633.1:p.Arg482Gln | |
| ENST00000347559.6:c.1445G>A | ENSP00000292304.3:p.Arg482Gln | |
| ENST00000361308.8:c.1312-206G>A | ENSP00000355292.5:n.1312-206G>A | |
| ENST00000368297.5:c.1202G>A | ENSP00000357280.1:p.Arg401Gln | |
| ENST00000368298.2:n.1193G>A | ||
| ENST00000368299.7:c.1445G>A | ENSP00000357282.3:p.Arg482Gln | |
| ENST00000368300.8:c.1445G>A | ENSP00000357283.4:p.Arg482Gln | |
| ENST00000368301.6:c.1445G>A | ENSP00000357284.2:p.Arg482Gln | |
| ENST00000448611.6:c.1109G>A | ENSP00000395597.2:p.Arg370Gln | |
| ENST00000459904.1:n.693G>A | ||
| ENST00000473598.6:c.1148G>A | ENSP00000421821.1:p.Arg383Gln | |
| ENST00000496738.5:n.830G>A | ||
| ENST00000498722.2:n.677G>A | ||
| ENST00000508500.1:c.323G>A | ENSP00000424977.1:p.Arg108Gln | |
| NM_001257374.2:c.1109G>A | NP_001244303.1:p.Arg370Gln | |
| NM_001282624.1:c.1202G>A | NP_001269553.1:p.Arg401Gln | |
| NM_001282625.1:c.1445G>A | NP_001269554.1:p.Arg482Gln | |
| NM_001282626.1:c.1445G>A | NP_001269555.1:p.Arg482Gln | |
| NM_005572.3:c.1445G>A , LRG_254t1:c.1445G>A | NP_005563.1:p.Arg482Gln | |
| NM_170707.3:c.1445G>A | NP_733821.1:p.Arg482Gln | |
| NM_170708.3:c.1445G>A | NP_733822.1:p.Arg482Gln | |
| XM_011509533.1:c.1109G>A | XP_011507835.1:p.Arg370Gln | |
| XM_011509534.1:c.821G>A | XP_011507836.1:p.Arg274Gln | |
| XR_921781.1:n.1734G>A | ||
| XM_011509534.2:c.821G>A | XP_011507836.1:p.Arg274Gln | |
| XR_921781.2:n.1732G>A | ||
| NM_170707.4:c.1445G>A MANE Select | NP_733821.1:p.Arg482Gln | |
| NM_001257374.3:c.1109G>A | NP_001244303.1:p.Arg370Gln | |
| NM_001282626.2:c.1445G>A | NP_001269555.1:p.Arg482Gln | |
| NM_001282624.2:c.1202G>A | NP_001269553.1:p.Arg401Gln | |
| NM_001282625.2:c.1445G>A | NP_001269554.1:p.Arg482Gln | |
| NM_005572.4:c.1445G>A MANE Plus Clinical | NP_005563.1:p.Arg482Gln | |
| NM_170708.4:c.1445G>A | NP_733822.1:p.Arg482Gln |