Linked Data
ClinVar Variation Id:
14504
ClinVar RCV Id:
RCV000015598
RCV000057409
RCV000211788
RCV000687241
RCV003318333
RCV004018635
RCV001170451
dbSNP Id:
rs28933093
gnomAD v2:
1-156100532-G-A
gnomAD v4:
1-156130741-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.156130741G>A , CM000663.2:g.156130741G>A | GRCh38 |
| NC_000001.10:g.156100532G>A , CM000663.1:g.156100532G>A | GRCh37 |
| NC_000001.9:g.154367156G>A | NCBI36 |
| NG_008692.2:g.53169G>A , LRG_254:g.53169G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504687.7:c.-78G>A | ENSP00000426535.3:n.-78G>A | |
| ENST00000682650.1:c.481G>A | ENSP00000506904.1:p.Glu161Lys | |
| ENST00000683032.1:c.481G>A | ENSP00000506771.1:p.Glu161Lys | |
| ENST00000684195.1:c.481G>A | ENSP00000508220.1:p.Glu161Lys | |
| ENST00000361308.9:c.481G>A | ENSP00000355292.6:p.Glu161Lys | |
| ENST00000368300.9:c.481G>A MANE Select | ENSP00000357283.4:p.Glu161Lys | |
| ENST00000496738.6:n.856G>A | ||
| ENST00000504687.6:c.-184G>A | ENSP00000426535.2:n.-184G>A | |
| ENST00000674518.1:c.481G>A | ENSP00000502261.1:p.Glu161Lys | |
| ENST00000674600.1:c.*280G>A | ENSP00000501666.1:n.*280G>A | |
| ENST00000674720.1:c.481G>A | ENSP00000502798.1:p.Glu161Lys | |
| ENST00000675431.1:n.174G>A | ||
| ENST00000675455.1:c.*281G>A | ENSP00000501795.1:n.*281G>A | |
| ENST00000675667.1:c.481G>A | ENSP00000501803.1:p.Glu161Lys | |
| ENST00000675874.1:c.357-3662G>A | ENSP00000501851.1:n.357-3662G>A | |
| ENST00000675881.1:c.481G>A | ENSP00000501670.1:p.Glu161Lys | |
| ENST00000675939.1:c.481G>A | ENSP00000502256.1:p.Glu161Lys | |
| ENST00000675989.1:n.856G>A | ||
| ENST00000676208.1:c.481G>A | ENSP00000502468.1:p.Glu161Lys | |
| ENST00000676283.1:n.856G>A | ||
| ENST00000676385.2:c.481G>A | ENSP00000502091.1:p.Glu161Lys | |
| ENST00000676434.1:c.481G>A | ENSP00000501648.1:p.Glu161Lys | |
| ENST00000677389.1:c.481G>A MANE Plus Clinical | ENSP00000503633.1:p.Glu161Lys | |
| ENST00000347559.6:c.481G>A | ENSP00000292304.3:p.Glu161Lys | |
| ENST00000361308.8:c.481G>A | ENSP00000355292.5:p.Glu161Lys | |
| ENST00000368297.5:c.238G>A | ENSP00000357280.1:p.Glu80Lys | |
| ENST00000368299.7:c.481G>A | ENSP00000357282.3:p.Glu161Lys | |
| ENST00000368300.8:c.481G>A | ENSP00000357283.4:p.Glu161Lys | |
| ENST00000368301.6:c.481G>A | ENSP00000357284.2:p.Glu161Lys | |
| ENST00000448611.6:c.145G>A | ENSP00000395597.2:p.Glu49Lys | |
| ENST00000469565.6:n.515G>A | ||
| ENST00000470199.2:n.423G>A | ||
| ENST00000473598.6:c.184G>A | ENSP00000421821.1:p.Glu62Lys | |
| ENST00000502357.5:n.379G>A | ||
| ENST00000502751.5:n.453G>A | ||
| ENST00000504687.5:c.232G>A | ENSP00000426535.1:p.Glu78Lys | |
| ENST00000515459.5:c.*155G>A | ENSP00000424518.1:n.*155G>A | |
| NM_001257374.2:c.145G>A | NP_001244303.1:p.Glu49Lys | |
| NM_001282624.1:c.238G>A | NP_001269553.1:p.Glu80Lys | |
| NM_001282625.1:c.481G>A | NP_001269554.1:p.Glu161Lys | |
| NM_001282626.1:c.481G>A | NP_001269555.1:p.Glu161Lys | |
| NM_005572.3:c.481G>A , LRG_254t1:c.481G>A | NP_005563.1:p.Glu161Lys | |
| NM_170707.3:c.481G>A | NP_733821.1:p.Glu161Lys | |
| NM_170708.3:c.481G>A | NP_733822.1:p.Glu161Lys | |
| XM_011509533.1:c.145G>A | XP_011507835.1:p.Glu49Lys | |
| XM_011509534.1:c.-184G>A | XP_011507836.1:n.-184G>A | |
| XR_921781.1:n.730G>A | ||
| XM_011509534.2:c.-184G>A | XP_011507836.1:n.-184G>A | |
| XR_921781.2:n.728G>A | ||
| NM_170707.4:c.481G>A MANE Select | NP_733821.1:p.Glu161Lys | |
| NM_001257374.3:c.145G>A | NP_001244303.1:p.Glu49Lys | |
| NM_001282626.2:c.481G>A | NP_001269555.1:p.Glu161Lys | |
| NM_001282624.2:c.238G>A | NP_001269553.1:p.Glu80Lys | |
| NM_001282625.2:c.481G>A | NP_001269554.1:p.Glu161Lys | |
| NM_005572.4:c.481G>A MANE Plus Clinical | NP_005563.1:p.Glu161Lys | |
| NM_170708.4:c.481G>A | NP_733822.1:p.Glu161Lys |