Linked Data
ClinVar Variation Id:
222694
ClinVar RCV Id:
RCV000207998
RCV000545586
RCV000777940
RCV001096750
RCV001096752
RCV001098488
RCV001096749
RCV001096751
RCV001098487
RCV001096746
RCV001096747
RCV001096748
RCV001098486
RCV001697242
dbSNP Id:
rs751707982
ExAC:
1:156105684 C / A
gnomAD v2:
1-156105684-C-A
gnomAD v3:
1-156135893-C-A
gnomAD v4:
1-156135893-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.156135893C>A , CM000663.2:g.156135893C>A | GRCh38 |
| NC_000001.10:g.156105684C>A , CM000663.1:g.156105684C>A | GRCh37 |
| NC_000001.9:g.154372308C>A | NCBI36 |
| NG_008692.2:g.58321C>A , LRG_254:g.58321C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504687.7:c.379-8C>A | ENSP00000426535.3:n.379-8C>A | |
| ENST00000498722.3:n.161C>A | ||
| ENST00000682650.1:c.937-8C>A | ENSP00000506904.1:n.937-8C>A | |
| ENST00000683032.1:c.937-8C>A | ENSP00000506771.1:n.937-8C>A | |
| ENST00000684195.1:c.937-8C>A | ENSP00000508220.1:n.937-8C>A | |
| ENST00000361308.9:c.937-8C>A | ENSP00000355292.6:n.937-8C>A | |
| ENST00000368300.9:c.937-8C>A MANE Select | ENSP00000357283.4:n.937-8C>A | |
| ENST00000496738.6:n.1312-8C>A | ||
| ENST00000674518.1:c.*287-8C>A | ENSP00000502261.1:n.*287-8C>A | |
| ENST00000674600.1:c.*736-8C>A | ENSP00000501666.1:n.*736-8C>A | |
| ENST00000674720.1:c.937-8C>A | ENSP00000502798.1:n.937-8C>A | |
| ENST00000675431.1:n.630-8C>A | ||
| ENST00000675455.1:c.*737-8C>A | ENSP00000501795.1:n.*737-8C>A | |
| ENST00000675667.1:c.937-8C>A | ENSP00000501803.1:n.937-8C>A | |
| ENST00000675874.1:c.*408-8C>A | ENSP00000501851.1:n.*408-8C>A | |
| ENST00000675881.1:c.969C>A | ENSP00000501670.1:p.Pro323= | |
| ENST00000675939.1:c.937-8C>A | ENSP00000502256.1:n.937-8C>A | |
| ENST00000675989.1:n.1312-8C>A | ||
| ENST00000676208.1:c.969C>A | ENSP00000502468.1:p.Pro323= | |
| ENST00000676283.1:n.1312-8C>A | ||
| ENST00000676385.2:c.937-8C>A | ENSP00000502091.1:n.937-8C>A | |
| ENST00000676434.1:c.969C>A | ENSP00000501648.1:p.Pro323= | |
| ENST00000677389.1:c.937-8C>A MANE Plus Clinical | ENSP00000503633.1:n.937-8C>A | |
| ENST00000347559.6:c.937-8C>A | ENSP00000292304.3:n.937-8C>A | |
| ENST00000361308.8:c.937-8C>A | ENSP00000355292.5:n.937-8C>A | |
| ENST00000368297.5:c.694-8C>A | ENSP00000357280.1:n.694-8C>A | |
| ENST00000368298.2:n.201-8C>A | ||
| ENST00000368299.7:c.937-8C>A | ENSP00000357282.3:n.937-8C>A | |
| ENST00000368300.8:c.937-8C>A | ENSP00000357283.4:n.937-8C>A | |
| ENST00000368301.6:c.937-8C>A | ENSP00000357284.2:n.937-8C>A | |
| ENST00000448611.6:c.601-8C>A | ENSP00000395597.2:n.601-8C>A | |
| ENST00000473598.6:c.640-8C>A | ENSP00000421821.1:n.640-8C>A | |
| ENST00000496738.5:n.314C>A | ||
| ENST00000498722.2:n.161C>A | ||
| NM_001257374.2:c.601-8C>A | NP_001244303.1:n.601-8C>A | |
| NM_001282624.1:c.694-8C>A | NP_001269553.1:n.694-8C>A | |
| NM_001282625.1:c.937-8C>A | NP_001269554.1:n.937-8C>A | |
| NM_001282626.1:c.937-8C>A | NP_001269555.1:n.937-8C>A | |
| NM_005572.3:c.937-8C>A , LRG_254t1:c.937-8C>A | NP_005563.1:n.937-8C>A | |
| NM_170707.3:c.937-8C>A | NP_733821.1:n.937-8C>A | |
| NM_170708.3:c.937-8C>A | NP_733822.1:n.937-8C>A | |
| XM_011509533.1:c.601-8C>A | XP_011507835.1:n.601-8C>A | |
| XM_011509534.1:c.305C>A | XP_011507836.1:p.Pro102His | |
| XR_921781.1:n.1218C>A | ||
| XM_011509534.2:c.305C>A | XP_011507836.1:p.Pro102His | |
| XR_921781.2:n.1216C>A | ||
| NM_170707.4:c.937-8C>A MANE Select | NP_733821.1:n.937-8C>A | |
| NM_001257374.3:c.601-8C>A | NP_001244303.1:n.601-8C>A | |
| NM_001282626.2:c.937-8C>A | NP_001269555.1:n.937-8C>A | |
| NM_001282624.2:c.694-8C>A | NP_001269553.1:n.694-8C>A | |
| NM_001282625.2:c.937-8C>A | NP_001269554.1:n.937-8C>A | |
| NM_005572.4:c.937-8C>A MANE Plus Clinical | NP_005563.1:n.937-8C>A | |
| NM_170708.4:c.937-8C>A | NP_733822.1:n.937-8C>A |