Linked Data
ClinVar Variation Id:
48098
ClinVar RCV Id:
RCV000182367
RCV000593819
RCV000769727
RCV001071970
RCV002381325
RCV003235003
RCV003335073
RCV001265547
dbSNP Id:
rs59301204
ExAC:
1:156105747 G / A
gnomAD v2:
1-156105747-G-A
gnomAD v3:
1-156135956-G-A
gnomAD v4:
1-156135956-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.156135956G>A , CM000663.2:g.156135956G>A | GRCh38 |
| NC_000001.10:g.156105747G>A , CM000663.1:g.156105747G>A | GRCh37 |
| NC_000001.9:g.154372371G>A | NCBI36 |
| NG_008692.2:g.58384G>A , LRG_254:g.58384G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504687.7:c.434G>A | ENSP00000426535.3:p.Arg145Gln | |
| ENST00000498722.3:n.224G>A | ||
| ENST00000682650.1:c.992G>A | ENSP00000506904.1:p.Arg331Gln | |
| ENST00000683032.1:c.992G>A | ENSP00000506771.1:p.Arg331Gln | |
| ENST00000684195.1:c.992G>A | ENSP00000508220.1:p.Arg331Gln | |
| ENST00000361308.9:c.992G>A | ENSP00000355292.6:p.Arg331Gln | |
| ENST00000368300.9:c.992G>A MANE Select | ENSP00000357283.4:p.Arg331Gln | |
| ENST00000496738.6:n.1367G>A | ||
| ENST00000674518.1:c.*342G>A | ENSP00000502261.1:n.*342G>A | |
| ENST00000674600.1:c.*791G>A | ENSP00000501666.1:n.*791G>A | |
| ENST00000674720.1:c.992G>A | ENSP00000502798.1:p.Arg331Gln | |
| ENST00000675431.1:n.685G>A | ||
| ENST00000675455.1:c.*792G>A | ENSP00000501795.1:n.*792G>A | |
| ENST00000675667.1:c.992G>A | ENSP00000501803.1:p.Arg331Gln | |
| ENST00000675874.1:c.*463G>A | ENSP00000501851.1:n.*463G>A | |
| ENST00000675881.1:c.*3G>A | ENSP00000501670.1:n.*3G>A | |
| ENST00000675939.1:c.992G>A | ENSP00000502256.1:p.Arg331Gln | |
| ENST00000675989.1:n.1367G>A | ||
| ENST00000676208.1:c.*3G>A | ENSP00000502468.1:n.*3G>A | |
| ENST00000676283.1:n.1367G>A | ||
| ENST00000676385.2:c.992G>A | ENSP00000502091.1:p.Arg331Gln | |
| ENST00000676434.1:c.*3G>A | ENSP00000501648.1:n.*3G>A | |
| ENST00000677389.1:c.992G>A MANE Plus Clinical | ENSP00000503633.1:p.Arg331Gln | |
| ENST00000347559.6:c.992G>A | ENSP00000292304.3:p.Arg331Gln | |
| ENST00000361308.8:c.992G>A | ENSP00000355292.5:p.Arg331Gln | |
| ENST00000368297.5:c.749G>A | ENSP00000357280.1:p.Arg250Gln | |
| ENST00000368298.2:n.256G>A | ||
| ENST00000368299.7:c.992G>A | ENSP00000357282.3:p.Arg331Gln | |
| ENST00000368300.8:c.992G>A | ENSP00000357283.4:p.Arg331Gln | |
| ENST00000368301.6:c.992G>A | ENSP00000357284.2:p.Arg331Gln | |
| ENST00000448611.6:c.656G>A | ENSP00000395597.2:p.Arg219Gln | |
| ENST00000473598.6:c.695G>A | ENSP00000421821.1:p.Arg232Gln | |
| ENST00000496738.5:n.377G>A | ||
| ENST00000498722.2:n.224G>A | ||
| NM_001257374.2:c.656G>A | NP_001244303.1:p.Arg219Gln | |
| NM_001282624.1:c.749G>A | NP_001269553.1:p.Arg250Gln | |
| NM_001282625.1:c.992G>A | NP_001269554.1:p.Arg331Gln | |
| NM_001282626.1:c.992G>A | NP_001269555.1:p.Arg331Gln | |
| NM_005572.3:c.992G>A , LRG_254t1:c.992G>A | NP_005563.1:p.Arg331Gln | |
| NM_170707.3:c.992G>A | NP_733821.1:p.Arg331Gln | |
| NM_170708.3:c.992G>A | NP_733822.1:p.Arg331Gln | |
| XM_011509533.1:c.656G>A | XP_011507835.1:p.Arg219Gln | |
| XM_011509534.1:c.368G>A | XP_011507836.1:p.Arg123Gln | |
| XR_921781.1:n.1281G>A | ||
| XM_011509534.2:c.368G>A | XP_011507836.1:p.Arg123Gln | |
| XR_921781.2:n.1279G>A | ||
| NM_170707.4:c.992G>A MANE Select | NP_733821.1:p.Arg331Gln | |
| NM_001257374.3:c.656G>A | NP_001244303.1:p.Arg219Gln | |
| NM_001282626.2:c.992G>A | NP_001269555.1:p.Arg331Gln | |
| NM_001282624.2:c.749G>A | NP_001269553.1:p.Arg250Gln | |
| NM_001282625.2:c.992G>A | NP_001269554.1:p.Arg331Gln | |
| NM_005572.4:c.992G>A MANE Plus Clinical | NP_005563.1:p.Arg331Gln | |
| NM_170708.4:c.992G>A | NP_733822.1:p.Arg331Gln |