Linked Data
ClinVar Variation Id:
14499
ClinVar RCV Id:
RCV000148607
RCV000057326
RCV000555364
RCV001178367
RCV001174240
RCV002399328
RCV003996101
RCV000015592
RCV000015591
dbSNP Id:
rs57520892
ExAC:
1:156106995 G / A
gnomAD v2:
1-156106995-G-A
gnomAD v3:
1-156137204-G-A
gnomAD v4:
1-156137204-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.156137204G>A , CM000663.2:g.156137204G>A | GRCh38 |
| NC_000001.10:g.156106995G>A , CM000663.1:g.156106995G>A | GRCh37 |
| NC_000001.9:g.154373619G>A | NCBI36 |
| NG_008692.2:g.59632G>A , LRG_254:g.59632G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504687.7:c.1022G>A | ENSP00000426535.3:p.Arg341His | |
| ENST00000459904.2:n.828G>A | ||
| ENST00000498722.3:n.812G>A | ||
| ENST00000682650.1:c.1580G>A | ENSP00000506904.1:p.Arg527His | |
| ENST00000683032.1:c.1580G>A | ENSP00000506771.1:p.Arg527His | |
| ENST00000684195.1:c.1579+1G>A | ENSP00000508220.1:n.1579+1G>A | |
| ENST00000361308.9:c.1580G>A | ENSP00000355292.6:p.Arg527His | |
| ENST00000368300.9:c.1580G>A MANE Select | ENSP00000357283.4:p.Arg527His | |
| ENST00000496738.6:n.2039G>A | ||
| ENST00000674518.1:c.*930G>A | ENSP00000502261.1:n.*930G>A | |
| ENST00000674600.1:c.*1379G>A | ENSP00000501666.1:n.*1379G>A | |
| ENST00000674720.1:c.*142G>A | ENSP00000502798.1:n.*142G>A | |
| ENST00000675431.1:n.1273G>A | ||
| ENST00000675455.1:c.*1380G>A | ENSP00000501795.1:n.*1380G>A | |
| ENST00000675667.1:c.1580G>A | ENSP00000501803.1:p.Arg527His | |
| ENST00000675874.1:c.*1051G>A | ENSP00000501851.1:n.*1051G>A | |
| ENST00000675881.1:c.*591G>A | ENSP00000501670.1:n.*591G>A | |
| ENST00000675939.1:c.1580G>A | ENSP00000502256.1:p.Arg527His | |
| ENST00000675989.1:n.2439G>A | ||
| ENST00000676208.1:c.*683G>A | ENSP00000502468.1:n.*683G>A | |
| ENST00000676283.1:n.1955G>A | ||
| ENST00000676385.2:c.1580G>A | ENSP00000502091.1:p.Arg527His | |
| ENST00000676434.1:c.*591G>A | ENSP00000501648.1:n.*591G>A | |
| ENST00000677389.1:c.1580G>A MANE Plus Clinical | ENSP00000503633.1:p.Arg527His | |
| ENST00000347559.6:c.1580G>A | ENSP00000292304.3:p.Arg527His | |
| ENST00000361308.8:c.1325G>A | ENSP00000355292.5:p.Arg442His | |
| ENST00000368297.5:c.1337G>A | ENSP00000357280.1:p.Arg446His | |
| ENST00000368298.2:n.1412G>A | ||
| ENST00000368299.7:c.1580G>A | ENSP00000357282.3:p.Arg527His | |
| ENST00000368300.8:c.1580G>A | ENSP00000357283.4:p.Arg527His | |
| ENST00000368301.6:c.1580G>A | ENSP00000357284.2:p.Arg527His | |
| ENST00000448611.6:c.1244G>A | ENSP00000395597.2:p.Arg415His | |
| ENST00000459904.1:n.828G>A | ||
| ENST00000473598.6:c.1283G>A | ENSP00000421821.1:p.Arg428His | |
| ENST00000496738.5:n.1049G>A | ||
| ENST00000498722.2:n.812G>A | ||
| ENST00000508500.1:c.458G>A | ENSP00000424977.1:p.Arg153His | |
| NM_001257374.2:c.1244G>A | NP_001244303.1:p.Arg415His | |
| NM_001282624.1:c.1337G>A | NP_001269553.1:p.Arg446His | |
| NM_001282625.1:c.1580G>A | NP_001269554.1:p.Arg527His | |
| NM_001282626.1:c.1580G>A | NP_001269555.1:p.Arg527His | |
| NM_005572.3:c.1580G>A , LRG_254t1:c.1580G>A | NP_005563.1:p.Arg527His | |
| NM_170707.3:c.1580G>A | NP_733821.1:p.Arg527His | |
| NM_170708.3:c.1580G>A | NP_733822.1:p.Arg527His | |
| XM_011509533.1:c.1244G>A | XP_011507835.1:p.Arg415His | |
| XM_011509534.1:c.956G>A | XP_011507836.1:p.Arg319His | |
| XR_921781.1:n.1869G>A | ||
| XM_011509534.2:c.956G>A | XP_011507836.1:p.Arg319His | |
| XR_921781.2:n.1867G>A | ||
| NM_170707.4:c.1580G>A MANE Select | NP_733821.1:p.Arg527His | |
| NM_001257374.3:c.1244G>A | NP_001244303.1:p.Arg415His | |
| NM_001282626.2:c.1580G>A | NP_001269555.1:p.Arg527His | |
| NM_001282624.2:c.1337G>A | NP_001269553.1:p.Arg446His | |
| NM_001282625.2:c.1580G>A | NP_001269554.1:p.Arg527His | |
| NM_005572.4:c.1580G>A MANE Plus Clinical | NP_005563.1:p.Arg527His | |
| NM_170708.4:c.1580G>A | NP_733822.1:p.Arg527His |