Linked Data
ClinVar Variation Id:
14487
ClinVar RCV Id:
RCV000015576
RCV000057324
RCV000192011
RCV001185736
RCV001223656
RCV002288492
RCV003319169
RCV003996098
dbSNP Id:
rs57318642
gnomAD v2:
1-156106994-C-T
gnomAD v3:
1-156137203-C-T
gnomAD v4:
1-156137203-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.156137203C>T , CM000663.2:g.156137203C>T | GRCh38 |
| NC_000001.10:g.156106994C>T , CM000663.1:g.156106994C>T | GRCh37 |
| NC_000001.9:g.154373618C>T | NCBI36 |
| NG_008692.2:g.59631C>T , LRG_254:g.59631C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504687.7:c.1021C>T | ENSP00000426535.3:p.Arg341Cys | |
| ENST00000459904.2:n.827C>T | ||
| ENST00000498722.3:n.811C>T | ||
| ENST00000682650.1:c.1579C>T | ENSP00000506904.1:p.Arg527Cys | |
| ENST00000683032.1:c.1579C>T | ENSP00000506771.1:p.Arg527Cys | |
| ENST00000684195.1:c.1579C>T | ENSP00000508220.1:p.Arg527Ter | |
| ENST00000361308.9:c.1579C>T | ENSP00000355292.6:p.Arg527Cys | |
| ENST00000368300.9:c.1579C>T MANE Select | ENSP00000357283.4:p.Arg527Cys | |
| ENST00000496738.6:n.2038C>T | ||
| ENST00000674518.1:c.*929C>T | ENSP00000502261.1:n.*929C>T | |
| ENST00000674600.1:c.*1378C>T | ENSP00000501666.1:n.*1378C>T | |
| ENST00000674720.1:c.*141C>T | ENSP00000502798.1:n.*141C>T | |
| ENST00000675431.1:n.1272C>T | ||
| ENST00000675455.1:c.*1379C>T | ENSP00000501795.1:n.*1379C>T | |
| ENST00000675667.1:c.1579C>T | ENSP00000501803.1:p.Arg527Cys | |
| ENST00000675874.1:c.*1050C>T | ENSP00000501851.1:n.*1050C>T | |
| ENST00000675881.1:c.*590C>T | ENSP00000501670.1:n.*590C>T | |
| ENST00000675939.1:c.1579C>T | ENSP00000502256.1:p.Arg527Cys | |
| ENST00000675989.1:n.2438C>T | ||
| ENST00000676208.1:c.*682C>T | ENSP00000502468.1:n.*682C>T | |
| ENST00000676283.1:n.1954C>T | ||
| ENST00000676385.2:c.1579C>T | ENSP00000502091.1:p.Arg527Cys | |
| ENST00000676434.1:c.*590C>T | ENSP00000501648.1:n.*590C>T | |
| ENST00000677389.1:c.1579C>T MANE Plus Clinical | ENSP00000503633.1:p.Arg527Cys | |
| ENST00000347559.6:c.1579C>T | ENSP00000292304.3:p.Arg527Cys | |
| ENST00000361308.8:c.1324C>T | ENSP00000355292.5:p.Arg442Cys | |
| ENST00000368297.5:c.1336C>T | ENSP00000357280.1:p.Arg446Cys | |
| ENST00000368298.2:n.1411C>T | ||
| ENST00000368299.7:c.1579C>T | ENSP00000357282.3:p.Arg527Cys | |
| ENST00000368300.8:c.1579C>T | ENSP00000357283.4:p.Arg527Cys | |
| ENST00000368301.6:c.1579C>T | ENSP00000357284.2:p.Arg527Cys | |
| ENST00000448611.6:c.1243C>T | ENSP00000395597.2:p.Arg415Cys | |
| ENST00000459904.1:n.827C>T | ||
| ENST00000473598.6:c.1282C>T | ENSP00000421821.1:p.Arg428Cys | |
| ENST00000496738.5:n.1048C>T | ||
| ENST00000498722.2:n.811C>T | ||
| ENST00000508500.1:c.457C>T | ENSP00000424977.1:p.Arg153Cys | |
| NM_001257374.2:c.1243C>T | NP_001244303.1:p.Arg415Cys | |
| NM_001282624.1:c.1336C>T | NP_001269553.1:p.Arg446Cys | |
| NM_001282625.1:c.1579C>T | NP_001269554.1:p.Arg527Cys | |
| NM_001282626.1:c.1579C>T | NP_001269555.1:p.Arg527Cys | |
| NM_005572.3:c.1579C>T , LRG_254t1:c.1579C>T | NP_005563.1:p.Arg527Cys | |
| NM_170707.3:c.1579C>T | NP_733821.1:p.Arg527Cys | |
| NM_170708.3:c.1579C>T | NP_733822.1:p.Arg527Cys | |
| XM_011509533.1:c.1243C>T | XP_011507835.1:p.Arg415Cys | |
| XM_011509534.1:c.955C>T | XP_011507836.1:p.Arg319Cys | |
| XR_921781.1:n.1868C>T | ||
| XM_011509534.2:c.955C>T | XP_011507836.1:p.Arg319Cys | |
| XR_921781.2:n.1866C>T | ||
| NM_170707.4:c.1579C>T MANE Select | NP_733821.1:p.Arg527Cys | |
| NM_001257374.3:c.1243C>T | NP_001244303.1:p.Arg415Cys | |
| NM_001282626.2:c.1579C>T | NP_001269555.1:p.Arg527Cys | |
| NM_001282624.2:c.1336C>T | NP_001269553.1:p.Arg446Cys | |
| NM_001282625.2:c.1579C>T | NP_001269554.1:p.Arg527Cys | |
| NM_005572.4:c.1579C>T MANE Plus Clinical | NP_005563.1:p.Arg527Cys | |
| NM_170708.4:c.1579C>T | NP_733822.1:p.Arg527Cys |