Linked Data
ClinVar Variation Id:
283170
dbSNP Id:
rs771623461
ExAC:
1:156105806 A / C
gnomAD v2:
1-156105806-A-C
gnomAD v4:
1-156136015-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.156136015A>C , CM000663.2:g.156136015A>C | GRCh38 |
| NC_000001.10:g.156105806A>C , CM000663.1:g.156105806A>C | GRCh37 |
| NC_000001.9:g.154372430A>C | NCBI36 |
| NG_008692.2:g.58443A>C , LRG_254:g.58443A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504687.7:c.493A>C | ENSP00000426535.3:p.Arg165= | |
| ENST00000498722.3:n.283A>C | ||
| ENST00000682650.1:c.1051A>C | ENSP00000506904.1:p.Arg351= | |
| ENST00000683032.1:c.1051A>C | ENSP00000506771.1:p.Arg351= | |
| ENST00000684195.1:c.1051A>C | ENSP00000508220.1:p.Arg351= | |
| ENST00000361308.9:c.1051A>C | ENSP00000355292.6:p.Arg351= | |
| ENST00000368300.9:c.1051A>C MANE Select | ENSP00000357283.4:p.Arg351= | |
| ENST00000496738.6:n.1426A>C | ||
| ENST00000674518.1:c.*401A>C | ENSP00000502261.1:n.*401A>C | |
| ENST00000674600.1:c.*850A>C | ENSP00000501666.1:n.*850A>C | |
| ENST00000674720.1:c.1051A>C | ENSP00000502798.1:p.Arg351= | |
| ENST00000675431.1:n.744A>C | ||
| ENST00000675455.1:c.*851A>C | ENSP00000501795.1:n.*851A>C | |
| ENST00000675667.1:c.1051A>C | ENSP00000501803.1:p.Arg351= | |
| ENST00000675874.1:c.*522A>C | ENSP00000501851.1:n.*522A>C | |
| ENST00000675881.1:c.*62A>C | ENSP00000501670.1:n.*62A>C | |
| ENST00000675939.1:c.1051A>C | ENSP00000502256.1:p.Arg351= | |
| ENST00000675989.1:n.1426A>C | ||
| ENST00000676208.1:c.*62A>C | ENSP00000502468.1:n.*62A>C | |
| ENST00000676283.1:n.1426A>C | ||
| ENST00000676385.2:c.1051A>C | ENSP00000502091.1:p.Arg351= | |
| ENST00000676434.1:c.*62A>C | ENSP00000501648.1:n.*62A>C | |
| ENST00000677389.1:c.1051A>C MANE Plus Clinical | ENSP00000503633.1:p.Arg351= | |
| ENST00000347559.6:c.1051A>C | ENSP00000292304.3:p.Arg351= | |
| ENST00000361308.8:c.1051A>C | ENSP00000355292.5:p.Arg351= | |
| ENST00000368297.5:c.808A>C | ENSP00000357280.1:p.Arg270= | |
| ENST00000368298.2:n.315A>C | ||
| ENST00000368299.7:c.1051A>C | ENSP00000357282.3:p.Arg351= | |
| ENST00000368300.8:c.1051A>C | ENSP00000357283.4:p.Arg351= | |
| ENST00000368301.6:c.1051A>C | ENSP00000357284.2:p.Arg351= | |
| ENST00000448611.6:c.715A>C | ENSP00000395597.2:p.Arg239= | |
| ENST00000473598.6:c.754A>C | ENSP00000421821.1:p.Arg252= | |
| ENST00000496738.5:n.436A>C | ||
| ENST00000498722.2:n.283A>C | ||
| NM_001257374.2:c.715A>C | NP_001244303.1:p.Arg239= | |
| NM_001282624.1:c.808A>C | NP_001269553.1:p.Arg270= | |
| NM_001282625.1:c.1051A>C | NP_001269554.1:p.Arg351= | |
| NM_001282626.1:c.1051A>C | NP_001269555.1:p.Arg351= | |
| NM_005572.3:c.1051A>C , LRG_254t1:c.1051A>C | NP_005563.1:p.Arg351= | |
| NM_170707.3:c.1051A>C | NP_733821.1:p.Arg351= | |
| NM_170708.3:c.1051A>C | NP_733822.1:p.Arg351= | |
| XM_011509533.1:c.715A>C | XP_011507835.1:p.Arg239= | |
| XM_011509534.1:c.427A>C | XP_011507836.1:p.Arg143= | |
| XR_921781.1:n.1340A>C | ||
| XM_011509534.2:c.427A>C | XP_011507836.1:p.Arg143= | |
| XR_921781.2:n.1338A>C | ||
| NM_170707.4:c.1051A>C MANE Select | NP_733821.1:p.Arg351= | |
| NM_001257374.3:c.715A>C | NP_001244303.1:p.Arg239= | |
| NM_001282626.2:c.1051A>C | NP_001269555.1:p.Arg351= | |
| NM_001282624.2:c.808A>C | NP_001269553.1:p.Arg270= | |
| NM_001282625.2:c.1051A>C | NP_001269554.1:p.Arg351= | |
| NM_005572.4:c.1051A>C MANE Plus Clinical | NP_005563.1:p.Arg351= | |
| NM_170708.4:c.1051A>C | NP_733822.1:p.Arg351= |