Linked Data
ClinVar Variation Id:
48096
dbSNP Id:
rs267607554
gnomAD v2:
1-156105716-C-T
gnomAD v4:
1-156135925-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.156135925C>T , CM000663.2:g.156135925C>T | GRCh38 |
| NC_000001.10:g.156105716C>T , CM000663.1:g.156105716C>T | GRCh37 |
| NC_000001.9:g.154372340C>T | NCBI36 |
| NG_008692.2:g.58353C>T , LRG_254:g.58353C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504687.7:c.403C>T | ENSP00000426535.3:p.Arg135Ter | |
| ENST00000498722.3:n.193C>T | ||
| ENST00000682650.1:c.961C>T | ENSP00000506904.1:p.Arg321Ter | |
| ENST00000683032.1:c.961C>T | ENSP00000506771.1:p.Arg321Ter | |
| ENST00000684195.1:c.961C>T | ENSP00000508220.1:p.Arg321Ter | |
| ENST00000361308.9:c.961C>T | ENSP00000355292.6:p.Arg321Ter | |
| ENST00000368300.9:c.961C>T MANE Select | ENSP00000357283.4:p.Arg321Ter | |
| ENST00000496738.6:n.1336C>T | ||
| ENST00000674518.1:c.*311C>T | ENSP00000502261.1:n.*311C>T | |
| ENST00000674600.1:c.*760C>T | ENSP00000501666.1:n.*760C>T | |
| ENST00000674720.1:c.961C>T | ENSP00000502798.1:p.Arg321Ter | |
| ENST00000675431.1:n.654C>T | ||
| ENST00000675455.1:c.*761C>T | ENSP00000501795.1:n.*761C>T | |
| ENST00000675667.1:c.961C>T | ENSP00000501803.1:p.Arg321Ter | |
| ENST00000675874.1:c.*432C>T | ENSP00000501851.1:n.*432C>T | |
| ENST00000675881.1:c.1001C>T | ENSP00000501670.1:p.Ser334Leu | |
| ENST00000675939.1:c.961C>T | ENSP00000502256.1:p.Arg321Ter | |
| ENST00000675989.1:n.1336C>T | ||
| ENST00000676208.1:c.1001C>T | ENSP00000502468.1:p.Ser334Leu | |
| ENST00000676283.1:n.1336C>T | ||
| ENST00000676385.2:c.961C>T | ENSP00000502091.1:p.Arg321Ter | |
| ENST00000676434.1:c.1001C>T | ENSP00000501648.1:p.Ser334Leu | |
| ENST00000677389.1:c.961C>T MANE Plus Clinical | ENSP00000503633.1:p.Arg321Ter | |
| ENST00000347559.6:c.961C>T | ENSP00000292304.3:p.Arg321Ter | |
| ENST00000361308.8:c.961C>T | ENSP00000355292.5:p.Arg321Ter | |
| ENST00000368297.5:c.718C>T | ENSP00000357280.1:p.Arg240Ter | |
| ENST00000368298.2:n.225C>T | ||
| ENST00000368299.7:c.961C>T | ENSP00000357282.3:p.Arg321Ter | |
| ENST00000368300.8:c.961C>T | ENSP00000357283.4:p.Arg321Ter | |
| ENST00000368301.6:c.961C>T | ENSP00000357284.2:p.Arg321Ter | |
| ENST00000448611.6:c.625C>T | ENSP00000395597.2:p.Arg209Ter | |
| ENST00000473598.6:c.664C>T | ENSP00000421821.1:p.Arg222Ter | |
| ENST00000496738.5:n.346C>T | ||
| ENST00000498722.2:n.193C>T | ||
| NM_001257374.2:c.625C>T | NP_001244303.1:p.Arg209Ter | |
| NM_001282624.1:c.718C>T | NP_001269553.1:p.Arg240Ter | |
| NM_001282625.1:c.961C>T | NP_001269554.1:p.Arg321Ter | |
| NM_001282626.1:c.961C>T | NP_001269555.1:p.Arg321Ter | |
| NM_005572.3:c.961C>T , LRG_254t1:c.961C>T | NP_005563.1:p.Arg321Ter | |
| NM_170707.3:c.961C>T | NP_733821.1:p.Arg321Ter | |
| NM_170708.3:c.961C>T | NP_733822.1:p.Arg321Ter | |
| XM_011509533.1:c.625C>T | XP_011507835.1:p.Arg209Ter | |
| XM_011509534.1:c.337C>T | XP_011507836.1:p.Arg113Ter | |
| XR_921781.1:n.1250C>T | ||
| XM_011509534.2:c.337C>T | XP_011507836.1:p.Arg113Ter | |
| XR_921781.2:n.1248C>T | ||
| NM_170707.4:c.961C>T MANE Select | NP_733821.1:p.Arg321Ter | |
| NM_001257374.3:c.625C>T | NP_001244303.1:p.Arg209Ter | |
| NM_001282626.2:c.961C>T | NP_001269555.1:p.Arg321Ter | |
| NM_001282624.2:c.718C>T | NP_001269553.1:p.Arg240Ter | |
| NM_001282625.2:c.961C>T | NP_001269554.1:p.Arg321Ter | |
| NM_005572.4:c.961C>T MANE Plus Clinical | NP_005563.1:p.Arg321Ter | |
| NM_170708.4:c.961C>T | NP_733822.1:p.Arg321Ter |