Linked Data
ClinVar Variation Id:
292836
ClinVar RCV Id:
RCV000259634
RCV000271579
RCV000277232
RCV000312526
RCV000319234
RCV000338954
RCV000366122
RCV000367228
RCV000373949
RCV000372986
RCV001096563
RCV000828218
RCV002061154
dbSNP Id:
rs886045365
gnomAD v2:
1-156104183-C-T
gnomAD v3:
1-156134392-C-T
gnomAD v4:
1-156134392-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.156134392C>T , CM000663.2:g.156134392C>T | GRCh38 |
| NC_000001.10:g.156104183C>T , CM000663.1:g.156104183C>T | GRCh37 |
| NC_000001.9:g.154370807C>T | NCBI36 |
| NG_008692.2:g.56820C>T , LRG_254:g.56820C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504687.7:c.-45-11C>T | ENSP00000426535.3:n.-45-11C>T | |
| ENST00000682650.1:c.514-11C>T | ENSP00000506904.1:n.514-11C>T | |
| ENST00000683032.1:c.514-11C>T | ENSP00000506771.1:n.514-11C>T | |
| ENST00000684195.1:c.514-11C>T | ENSP00000508220.1:n.514-11C>T | |
| ENST00000361308.9:c.514-11C>T | ENSP00000355292.6:n.514-11C>T | |
| ENST00000368300.9:c.514-11C>T MANE Select | ENSP00000357283.4:n.514-11C>T | |
| ENST00000496738.6:n.889-11C>T | ||
| ENST00000504687.6:c.-151-11C>T | ENSP00000426535.2:n.-151-11C>T | |
| ENST00000674518.1:c.514-11C>T | ENSP00000502261.1:n.514-11C>T | |
| ENST00000674600.1:c.*313-11C>T | ENSP00000501666.1:n.*313-11C>T | |
| ENST00000674720.1:c.514-11C>T | ENSP00000502798.1:n.514-11C>T | |
| ENST00000675431.1:n.207-11C>T | ||
| ENST00000675455.1:c.*314-11C>T | ENSP00000501795.1:n.*314-11C>T | |
| ENST00000675667.1:c.514-11C>T | ENSP00000501803.1:n.514-11C>T | |
| ENST00000675874.1:c.357-11C>T | ENSP00000501851.1:n.357-11C>T | |
| ENST00000675881.1:c.514-11C>T | ENSP00000501670.1:n.514-11C>T | |
| ENST00000675939.1:c.514-11C>T | ENSP00000502256.1:n.514-11C>T | |
| ENST00000675989.1:n.889-11C>T | ||
| ENST00000676208.1:c.514-11C>T | ENSP00000502468.1:n.514-11C>T | |
| ENST00000676283.1:n.889-11C>T | ||
| ENST00000676385.2:c.514-11C>T | ENSP00000502091.1:n.514-11C>T | |
| ENST00000676434.1:c.514-11C>T | ENSP00000501648.1:n.514-11C>T | |
| ENST00000677389.1:c.514-11C>T MANE Plus Clinical | ENSP00000503633.1:n.514-11C>T | |
| ENST00000347559.6:c.514-11C>T | ENSP00000292304.3:n.514-11C>T | |
| ENST00000361308.8:c.514-11C>T | ENSP00000355292.5:n.514-11C>T | |
| ENST00000368297.5:c.271-11C>T | ENSP00000357280.1:n.271-11C>T | |
| ENST00000368299.7:c.514-11C>T | ENSP00000357282.3:n.514-11C>T | |
| ENST00000368300.8:c.514-11C>T | ENSP00000357283.4:n.514-11C>T | |
| ENST00000368301.6:c.514-11C>T | ENSP00000357284.2:n.514-11C>T | |
| ENST00000448611.6:c.178-11C>T | ENSP00000395597.2:n.178-11C>T | |
| ENST00000469565.6:n.548-11C>T | ||
| ENST00000470199.2:n.456-11C>T | ||
| ENST00000473598.6:c.217-11C>T | ENSP00000421821.1:n.217-11C>T | |
| ENST00000502357.5:n.412-11C>T | ||
| ENST00000502751.5:n.486-11C>T | ||
| ENST00000504687.5:c.265-11C>T | ENSP00000426535.1:n.265-11C>T | |
| ENST00000515459.5:c.*188-11C>T | ENSP00000424518.1:n.*188-11C>T | |
| NM_001257374.2:c.178-11C>T | NP_001244303.1:n.178-11C>T | |
| NM_001282624.1:c.271-11C>T | NP_001269553.1:n.271-11C>T | |
| NM_001282625.1:c.514-11C>T | NP_001269554.1:n.514-11C>T | |
| NM_001282626.1:c.514-11C>T | NP_001269555.1:n.514-11C>T | |
| NM_005572.3:c.514-11C>T , LRG_254t1:c.514-11C>T | NP_005563.1:n.514-11C>T | |
| NM_170707.3:c.514-11C>T | NP_733821.1:n.514-11C>T | |
| NM_170708.3:c.514-11C>T | NP_733822.1:n.514-11C>T | |
| XM_011509533.1:c.178-11C>T | XP_011507835.1:n.178-11C>T | |
| XM_011509534.1:c.-151-11C>T | XP_011507836.1:n.-151-11C>T | |
| XR_921781.1:n.763-11C>T | ||
| XM_011509534.2:c.-151-11C>T | XP_011507836.1:n.-151-11C>T | |
| XR_921781.2:n.761-11C>T | ||
| NM_170707.4:c.514-11C>T MANE Select | NP_733821.1:n.514-11C>T | |
| NM_001257374.3:c.178-11C>T | NP_001244303.1:n.178-11C>T | |
| NM_001282626.2:c.514-11C>T | NP_001269555.1:n.514-11C>T | |
| NM_001282624.2:c.271-11C>T | NP_001269553.1:n.271-11C>T | |
| NM_001282625.2:c.514-11C>T | NP_001269554.1:n.514-11C>T | |
| NM_005572.4:c.514-11C>T MANE Plus Clinical | NP_005563.1:n.514-11C>T | |
| NM_170708.4:c.514-11C>T | NP_733822.1:n.514-11C>T |