Linked Data
ClinVar Variation Id:
519299
dbSNP Id:
rs60695352
ExAC:
1:156084858 G / A
gnomAD v2:
1-156084858-G-A
gnomAD v3:
1-156115067-G-A
gnomAD v4:
1-156115067-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.156115067G>A , CM000663.2:g.156115067G>A | GRCh38 |
| NC_000001.10:g.156084858G>A , CM000663.1:g.156084858G>A | GRCh37 |
| NC_000001.9:g.154351482G>A | NCBI36 |
| NG_008692.2:g.37495G>A , LRG_254:g.37495G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682650.1:c.149G>A | ENSP00000506904.1:p.Arg50His | |
| ENST00000683032.1:c.149G>A | ENSP00000506771.1:p.Arg50His | |
| ENST00000684195.1:c.149G>A | ENSP00000508220.1:p.Arg50His | |
| ENST00000361308.9:c.149G>A | ENSP00000355292.6:p.Arg50His | |
| ENST00000368300.9:c.149G>A MANE Select | ENSP00000357283.4:p.Arg50His | |
| ENST00000496738.6:n.524G>A | ||
| ENST00000674518.1:c.149G>A | ENSP00000502261.1:p.Arg50His | |
| ENST00000674600.1:c.149G>A | ENSP00000501666.1:p.Arg50His | |
| ENST00000674720.1:c.149G>A | ENSP00000502798.1:p.Arg50His | |
| ENST00000675455.1:c.84-24G>A | ENSP00000501795.1:n.84-24G>A | |
| ENST00000675667.1:c.149G>A | ENSP00000501803.1:p.Arg50His | |
| ENST00000675874.1:c.149G>A | ENSP00000501851.1:p.Arg50His | |
| ENST00000675881.1:c.149G>A | ENSP00000501670.1:p.Arg50His | |
| ENST00000675939.1:c.149G>A | ENSP00000502256.1:p.Arg50His | |
| ENST00000675989.1:n.524G>A | ||
| ENST00000676208.1:c.149G>A | ENSP00000502468.1:p.Arg50His | |
| ENST00000676283.1:n.524G>A | ||
| ENST00000676385.2:c.149G>A | ENSP00000502091.1:p.Arg50His | |
| ENST00000676434.1:c.149G>A | ENSP00000501648.1:p.Arg50His | |
| ENST00000677389.1:c.149G>A MANE Plus Clinical | ENSP00000503633.1:p.Arg50His | |
| ENST00000347559.6:c.149G>A | ENSP00000292304.3:p.Arg50His | |
| ENST00000361308.8:c.149G>A | ENSP00000355292.5:p.Arg50His | |
| ENST00000368299.7:c.149G>A | ENSP00000357282.3:p.Arg50His | |
| ENST00000368300.8:c.149G>A | ENSP00000357283.4:p.Arg50His | |
| ENST00000368301.6:c.149G>A | ENSP00000357284.2:p.Arg50His | |
| ENST00000469565.6:n.183G>A | ||
| ENST00000470199.2:n.356+1G>A | ||
| ENST00000502751.5:n.329-15550G>A | ||
| NM_001282625.1:c.149G>A | NP_001269554.1:p.Arg50His | |
| NM_001282626.1:c.149G>A | NP_001269555.1:p.Arg50His | |
| NM_005572.3:c.149G>A , LRG_254t1:c.149G>A | NP_005563.1:p.Arg50His | |
| NM_170707.3:c.149G>A | NP_733821.1:p.Arg50His | |
| NM_170708.3:c.149G>A | NP_733822.1:p.Arg50His | |
| XR_921781.1:n.398G>A | ||
| XR_921781.2:n.396G>A | ||
| NM_170707.4:c.149G>A MANE Select | NP_733821.1:p.Arg50His | |
| NM_001282626.2:c.149G>A | NP_001269555.1:p.Arg50His | |
| NM_001282625.2:c.149G>A | NP_001269554.1:p.Arg50His | |
| NM_005572.4:c.149G>A MANE Plus Clinical | NP_005563.1:p.Arg50His | |
| NM_170708.4:c.149G>A | NP_733822.1:p.Arg50His |