Linked Data
ClinVar Variation Id:
200936
ClinVar RCV Id:
RCV000182358
RCV000778038
RCV001081191
RCV001099967
RCV001099969
RCV001101973
RCV001099966
RCV001099968
RCV001101972
RCV000727266
RCV001099963
RCV001099964
RCV001099965
RCV001101971
RCV002336452
dbSNP Id:
rs150645079
ExAC:
1:156100522 G / A
gnomAD v2:
1-156100522-G-A
gnomAD v3:
1-156130731-G-A
gnomAD v4:
1-156130731-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.156130731G>A , CM000663.2:g.156130731G>A | GRCh38 |
| NC_000001.10:g.156100522G>A , CM000663.1:g.156100522G>A | GRCh37 |
| NC_000001.9:g.154367146G>A | NCBI36 |
| NG_008692.2:g.53159G>A , LRG_254:g.53159G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504687.7:c.-88G>A | ENSP00000426535.3:n.-88G>A | |
| ENST00000682650.1:c.471G>A | ENSP00000506904.1:p.Thr157= | |
| ENST00000683032.1:c.471G>A | ENSP00000506771.1:p.Thr157= | |
| ENST00000684195.1:c.471G>A | ENSP00000508220.1:p.Thr157= | |
| ENST00000361308.9:c.471G>A | ENSP00000355292.6:p.Thr157= | |
| ENST00000368300.9:c.471G>A MANE Select | ENSP00000357283.4:p.Thr157= | |
| ENST00000496738.6:n.846G>A | ||
| ENST00000504687.6:c.-194G>A | ENSP00000426535.2:n.-194G>A | |
| ENST00000674518.1:c.471G>A | ENSP00000502261.1:p.Thr157= | |
| ENST00000674600.1:c.*270G>A | ENSP00000501666.1:n.*270G>A | |
| ENST00000674720.1:c.471G>A | ENSP00000502798.1:p.Thr157= | |
| ENST00000675431.1:n.164G>A | ||
| ENST00000675455.1:c.*271G>A | ENSP00000501795.1:n.*271G>A | |
| ENST00000675667.1:c.471G>A | ENSP00000501803.1:p.Thr157= | |
| ENST00000675874.1:c.357-3672G>A | ENSP00000501851.1:n.357-3672G>A | |
| ENST00000675881.1:c.471G>A | ENSP00000501670.1:p.Thr157= | |
| ENST00000675939.1:c.471G>A | ENSP00000502256.1:p.Thr157= | |
| ENST00000675989.1:n.846G>A | ||
| ENST00000676208.1:c.471G>A | ENSP00000502468.1:p.Thr157= | |
| ENST00000676283.1:n.846G>A | ||
| ENST00000676385.2:c.471G>A | ENSP00000502091.1:p.Thr157= | |
| ENST00000676434.1:c.471G>A | ENSP00000501648.1:p.Thr157= | |
| ENST00000677389.1:c.471G>A MANE Plus Clinical | ENSP00000503633.1:p.Thr157= | |
| ENST00000347559.6:c.471G>A | ENSP00000292304.3:p.Thr157= | |
| ENST00000361308.8:c.471G>A | ENSP00000355292.5:p.Thr157= | |
| ENST00000368297.5:c.228G>A | ENSP00000357280.1:p.Thr76= | |
| ENST00000368299.7:c.471G>A | ENSP00000357282.3:p.Thr157= | |
| ENST00000368300.8:c.471G>A | ENSP00000357283.4:p.Thr157= | |
| ENST00000368301.6:c.471G>A | ENSP00000357284.2:p.Thr157= | |
| ENST00000448611.6:c.135G>A | ENSP00000395597.2:p.Thr45= | |
| ENST00000469565.6:n.505G>A | ||
| ENST00000470199.2:n.413G>A | ||
| ENST00000473598.6:c.174G>A | ENSP00000421821.1:p.Thr58= | |
| ENST00000502357.5:n.369G>A | ||
| ENST00000502751.5:n.443G>A | ||
| ENST00000504687.5:c.222G>A | ENSP00000426535.1:p.Thr74= | |
| ENST00000515459.5:c.*145G>A | ENSP00000424518.1:n.*145G>A | |
| NM_001257374.2:c.135G>A | NP_001244303.1:p.Thr45= | |
| NM_001282624.1:c.228G>A | NP_001269553.1:p.Thr76= | |
| NM_001282625.1:c.471G>A | NP_001269554.1:p.Thr157= | |
| NM_001282626.1:c.471G>A | NP_001269555.1:p.Thr157= | |
| NM_005572.3:c.471G>A , LRG_254t1:c.471G>A | NP_005563.1:p.Thr157= | |
| NM_170707.3:c.471G>A | NP_733821.1:p.Thr157= | |
| NM_170708.3:c.471G>A | NP_733822.1:p.Thr157= | |
| XM_011509533.1:c.135G>A | XP_011507835.1:p.Thr45= | |
| XM_011509534.1:c.-194G>A | XP_011507836.1:n.-194G>A | |
| XR_921781.1:n.720G>A | ||
| XM_011509534.2:c.-194G>A | XP_011507836.1:n.-194G>A | |
| XR_921781.2:n.718G>A | ||
| NM_170707.4:c.471G>A MANE Select | NP_733821.1:p.Thr157= | |
| NM_001257374.3:c.135G>A | NP_001244303.1:p.Thr45= | |
| NM_001282626.2:c.471G>A | NP_001269555.1:p.Thr157= | |
| NM_001282624.2:c.228G>A | NP_001269553.1:p.Thr76= | |
| NM_001282625.2:c.471G>A | NP_001269554.1:p.Thr157= | |
| NM_005572.4:c.471G>A MANE Plus Clinical | NP_005563.1:p.Thr157= | |
| NM_170708.4:c.471G>A | NP_733822.1:p.Thr157= |