Linked Data
ClinVar Variation Id:
199111
ClinVar RCV Id:
RCV000223139
RCV000231059
RCV000259331
RCV000274426
RCV000331994
RCV000306169
RCV000373945
RCV000309672
RCV000392077
RCV000363237
RCV000392082
RCV000589163
RCV000620476
RCV001093871
RCV001100975
RCV001172636
RCV000771258
RCV003996588
dbSNP Id:
rs41314035
ExAC:
1:156106966 G / A
gnomAD v2:
1-156106966-G-A
gnomAD v3:
1-156137175-G-A
gnomAD v4:
1-156137175-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.156137175G>A , CM000663.2:g.156137175G>A | GRCh38 |
| NC_000001.10:g.156106966G>A , CM000663.1:g.156106966G>A | GRCh37 |
| NC_000001.9:g.154373590G>A | NCBI36 |
| NG_008692.2:g.59603G>A , LRG_254:g.59603G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504687.7:c.993G>A | ENSP00000426535.3:p.Gln331= | |
| ENST00000459904.2:n.799G>A | ||
| ENST00000498722.3:n.783G>A | ||
| ENST00000682650.1:c.1551G>A | ENSP00000506904.1:p.Gln517= | |
| ENST00000683032.1:c.1551G>A | ENSP00000506771.1:p.Gln517= | |
| ENST00000684195.1:c.1551G>A | ENSP00000508220.1:p.Gln517= | |
| ENST00000361308.9:c.1551G>A | ENSP00000355292.6:p.Gln517= | |
| ENST00000368300.9:c.1551G>A MANE Select | ENSP00000357283.4:p.Gln517= | |
| ENST00000496738.6:n.2010G>A | ||
| ENST00000674518.1:c.*901G>A | ENSP00000502261.1:n.*901G>A | |
| ENST00000674600.1:c.*1350G>A | ENSP00000501666.1:n.*1350G>A | |
| ENST00000674720.1:c.*113G>A | ENSP00000502798.1:n.*113G>A | |
| ENST00000675431.1:n.1244G>A | ||
| ENST00000675455.1:c.*1351G>A | ENSP00000501795.1:n.*1351G>A | |
| ENST00000675667.1:c.1551G>A | ENSP00000501803.1:p.Gln517= | |
| ENST00000675874.1:c.*1022G>A | ENSP00000501851.1:n.*1022G>A | |
| ENST00000675881.1:c.*562G>A | ENSP00000501670.1:n.*562G>A | |
| ENST00000675939.1:c.1551G>A | ENSP00000502256.1:p.Gln517= | |
| ENST00000675989.1:n.2410G>A | ||
| ENST00000676208.1:c.*654G>A | ENSP00000502468.1:n.*654G>A | |
| ENST00000676283.1:n.1926G>A | ||
| ENST00000676385.2:c.1551G>A | ENSP00000502091.1:p.Gln517= | |
| ENST00000676434.1:c.*562G>A | ENSP00000501648.1:n.*562G>A | |
| ENST00000677389.1:c.1551G>A MANE Plus Clinical | ENSP00000503633.1:p.Gln517= | |
| ENST00000347559.6:c.1551G>A | ENSP00000292304.3:p.Gln517= | |
| ENST00000361308.8:c.1312-16G>A | ENSP00000355292.5:n.1312-16G>A | |
| ENST00000368297.5:c.1308G>A | ENSP00000357280.1:p.Gln436= | |
| ENST00000368298.2:n.1383G>A | ||
| ENST00000368299.7:c.1551G>A | ENSP00000357282.3:p.Gln517= | |
| ENST00000368300.8:c.1551G>A | ENSP00000357283.4:p.Gln517= | |
| ENST00000368301.6:c.1551G>A | ENSP00000357284.2:p.Gln517= | |
| ENST00000448611.6:c.1215G>A | ENSP00000395597.2:p.Gln405= | |
| ENST00000459904.1:n.799G>A | ||
| ENST00000473598.6:c.1254G>A | ENSP00000421821.1:p.Gln418= | |
| ENST00000496738.5:n.1020G>A | ||
| ENST00000498722.2:n.783G>A | ||
| ENST00000508500.1:c.429G>A | ENSP00000424977.1:p.Gln143= | |
| NM_001257374.2:c.1215G>A | NP_001244303.1:p.Gln405= | |
| NM_001282624.1:c.1308G>A | NP_001269553.1:p.Gln436= | |
| NM_001282625.1:c.1551G>A | NP_001269554.1:p.Gln517= | |
| NM_001282626.1:c.1551G>A | NP_001269555.1:p.Gln517= | |
| NM_005572.3:c.1551G>A , LRG_254t1:c.1551G>A | NP_005563.1:p.Gln517= | |
| NM_170707.3:c.1551G>A | NP_733821.1:p.Gln517= | |
| NM_170708.3:c.1551G>A | NP_733822.1:p.Gln517= | |
| XM_011509533.1:c.1215G>A | XP_011507835.1:p.Gln405= | |
| XM_011509534.1:c.927G>A | XP_011507836.1:p.Gln309= | |
| XR_921781.1:n.1840G>A | ||
| XM_011509534.2:c.927G>A | XP_011507836.1:p.Gln309= | |
| XR_921781.2:n.1838G>A | ||
| NM_170707.4:c.1551G>A MANE Select | NP_733821.1:p.Gln517= | |
| NM_001257374.3:c.1215G>A | NP_001244303.1:p.Gln405= | |
| NM_001282626.2:c.1551G>A | NP_001269555.1:p.Gln517= | |
| NM_001282624.2:c.1308G>A | NP_001269553.1:p.Gln436= | |
| NM_001282625.2:c.1551G>A | NP_001269554.1:p.Gln517= | |
| NM_005572.4:c.1551G>A MANE Plus Clinical | NP_005563.1:p.Gln517= | |
| NM_170708.4:c.1551G>A | NP_733822.1:p.Gln517= |