Linked Data
ClinVar Variation Id:
14522
dbSNP Id:
rs121912494
gnomAD v2:
1-156107000-G-A
gnomAD v4:
1-156137209-G-A
PubMed:
PMID:17935239
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.156137209G>A , CM000663.2:g.156137209G>A | GRCh38 |
| NC_000001.10:g.156107000G>A , CM000663.1:g.156107000G>A | GRCh37 |
| NC_000001.9:g.154373624G>A | NCBI36 |
| NG_008692.2:g.59637G>A , LRG_254:g.59637G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000504687.7:c.1027G>A | ENSP00000426535.3:p.Ala343Thr | |
| ENST00000459904.2:n.833G>A | ||
| ENST00000498722.3:n.817G>A | ||
| ENST00000682650.1:c.1585G>A | ENSP00000506904.1:p.Ala529Thr | |
| ENST00000683032.1:c.1585G>A | ENSP00000506771.1:p.Ala529Thr | |
| ENST00000684195.1:c.1579+6G>A | ENSP00000508220.1:n.1579+6G>A | |
| ENST00000361308.9:c.1585G>A | ENSP00000355292.6:p.Ala529Thr | |
| ENST00000368300.9:c.1585G>A MANE Select | ENSP00000357283.4:p.Ala529Thr | |
| ENST00000496738.6:n.2044G>A | ||
| ENST00000674518.1:c.*935G>A | ENSP00000502261.1:n.*935G>A | |
| ENST00000674600.1:c.*1384G>A | ENSP00000501666.1:n.*1384G>A | |
| ENST00000674720.1:c.*147G>A | ENSP00000502798.1:n.*147G>A | |
| ENST00000675431.1:n.1278G>A | ||
| ENST00000675455.1:c.*1385G>A | ENSP00000501795.1:n.*1385G>A | |
| ENST00000675667.1:c.1585G>A | ENSP00000501803.1:p.Ala529Thr | |
| ENST00000675874.1:c.*1056G>A | ENSP00000501851.1:n.*1056G>A | |
| ENST00000675881.1:c.*596G>A | ENSP00000501670.1:n.*596G>A | |
| ENST00000675939.1:c.1585G>A | ENSP00000502256.1:p.Ala529Thr | |
| ENST00000675989.1:n.2444G>A | ||
| ENST00000676208.1:c.*688G>A | ENSP00000502468.1:n.*688G>A | |
| ENST00000676283.1:n.1960G>A | ||
| ENST00000676385.2:c.1585G>A | ENSP00000502091.1:p.Ala529Thr | |
| ENST00000676434.1:c.*596G>A | ENSP00000501648.1:n.*596G>A | |
| ENST00000677389.1:c.1585G>A MANE Plus Clinical | ENSP00000503633.1:p.Ala529Thr | |
| ENST00000347559.6:c.1585G>A | ENSP00000292304.3:p.Ala529Thr | |
| ENST00000361308.8:c.1330G>A | ENSP00000355292.5:p.Ala444Thr | |
| ENST00000368297.5:c.1342G>A | ENSP00000357280.1:p.Ala448Thr | |
| ENST00000368298.2:n.1417G>A | ||
| ENST00000368299.7:c.1585G>A | ENSP00000357282.3:p.Ala529Thr | |
| ENST00000368300.8:c.1585G>A | ENSP00000357283.4:p.Ala529Thr | |
| ENST00000368301.6:c.1585G>A | ENSP00000357284.2:p.Ala529Thr | |
| ENST00000448611.6:c.1249G>A | ENSP00000395597.2:p.Ala417Thr | |
| ENST00000459904.1:n.833G>A | ||
| ENST00000473598.6:c.1288G>A | ENSP00000421821.1:p.Ala430Thr | |
| ENST00000496738.5:n.1054G>A | ||
| ENST00000498722.2:n.817G>A | ||
| ENST00000508500.1:c.463G>A | ENSP00000424977.1:p.Ala155Thr | |
| NM_001257374.2:c.1249G>A | NP_001244303.1:p.Ala417Thr | |
| NM_001282624.1:c.1342G>A | NP_001269553.1:p.Ala448Thr | |
| NM_001282625.1:c.1585G>A | NP_001269554.1:p.Ala529Thr | |
| NM_001282626.1:c.1585G>A | NP_001269555.1:p.Ala529Thr | |
| NM_005572.3:c.1585G>A , LRG_254t1:c.1585G>A | NP_005563.1:p.Ala529Thr | |
| NM_170707.3:c.1585G>A | NP_733821.1:p.Ala529Thr | |
| NM_170708.3:c.1585G>A | NP_733822.1:p.Ala529Thr | |
| XM_011509533.1:c.1249G>A | XP_011507835.1:p.Ala417Thr | |
| XM_011509534.1:c.961G>A | XP_011507836.1:p.Ala321Thr | |
| XR_921781.1:n.1874G>A | ||
| XM_011509534.2:c.961G>A | XP_011507836.1:p.Ala321Thr | |
| XR_921781.2:n.1872G>A | ||
| NM_170707.4:c.1585G>A MANE Select | NP_733821.1:p.Ala529Thr | |
| NM_001257374.3:c.1249G>A | NP_001244303.1:p.Ala417Thr | |
| NM_001282626.2:c.1585G>A | NP_001269555.1:p.Ala529Thr | |
| NM_001282624.2:c.1342G>A | NP_001269553.1:p.Ala448Thr | |
| NM_001282625.2:c.1585G>A | NP_001269554.1:p.Ala529Thr | |
| NM_005572.4:c.1585G>A MANE Plus Clinical | NP_005563.1:p.Ala529Thr | |
| NM_170708.4:c.1585G>A | NP_733822.1:p.Ala529Thr |