Linked Data
ClinVar Variation Id:
200928
ClinVar RCV Id:
RCV000182349
RCV000664076
RCV000778037
RCV001701632
RCV004020193
RCV000852591
RCV001852310
RCV002464010
dbSNP Id:
rs200917748
ExAC:
1:156107548 G / A
gnomAD v2:
1-156107548-G-A
gnomAD v3:
1-156137757-G-A
gnomAD v4:
1-156137757-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.156137757G>A , CM000663.2:g.156137757G>A | GRCh38 |
| NC_000001.10:g.156107548G>A , CM000663.1:g.156107548G>A | GRCh37 |
| NC_000001.9:g.154374172G>A | NCBI36 |
| NG_008692.2:g.60185G>A , LRG_254:g.60185G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504687.7:c.1140+14G>A | ENSP00000426535.3:n.1140+14G>A | |
| ENST00000498722.3:n.944G>A | ||
| ENST00000682650.1:c.1608+525G>A | ENSP00000506904.1:n.1608+525G>A | |
| ENST00000683032.1:c.1698+14G>A | ENSP00000506771.1:n.1698+14G>A | |
| ENST00000683773.1:n.43+14G>A | ||
| ENST00000684195.1:c.*60G>A | ENSP00000508220.1:n.*60G>A | |
| ENST00000361308.9:c.1698+14G>A | ENSP00000355292.6:n.1698+14G>A | |
| ENST00000368300.9:c.1698+14G>A MANE Select | ENSP00000357283.4:n.1698+14G>A | |
| ENST00000496738.6:n.2171G>A | ||
| ENST00000674518.1:c.*1048+14G>A | ENSP00000502261.1:n.*1048+14G>A | |
| ENST00000674600.1:c.*1497+14G>A | ENSP00000501666.1:n.*1497+14G>A | |
| ENST00000674720.1:c.*274G>A | ENSP00000502798.1:n.*274G>A | |
| ENST00000675431.1:n.1405G>A | ||
| ENST00000675455.1:c.*1498+14G>A | ENSP00000501795.1:n.*1498+14G>A | |
| ENST00000675667.1:c.1698+14G>A | ENSP00000501803.1:n.1698+14G>A | |
| ENST00000675874.1:c.*1169+14G>A | ENSP00000501851.1:n.*1169+14G>A | |
| ENST00000675881.1:c.*709+14G>A | ENSP00000501670.1:n.*709+14G>A | |
| ENST00000675939.1:c.1698+14G>A | ENSP00000502256.1:n.1698+14G>A | |
| ENST00000675989.1:n.2571G>A | ||
| ENST00000676208.1:c.*801+14G>A | ENSP00000502468.1:n.*801+14G>A | |
| ENST00000676283.1:n.2508G>A | ||
| ENST00000676385.2:c.1608+525G>A | ENSP00000502091.1:n.1608+525G>A | |
| ENST00000676434.1:c.*723G>A | ENSP00000501648.1:n.*723G>A | |
| ENST00000677389.1:c.1712G>A MANE Plus Clinical | ENSP00000503633.1:p.Arg571His | |
| ENST00000347559.6:c.1608+525G>A | ENSP00000292304.3:n.1608+525G>A | |
| ENST00000361308.8:c.1457G>A | ENSP00000355292.5:p.Arg486His | |
| ENST00000368297.5:c.1469G>A | ENSP00000357280.1:p.Arg490His | |
| ENST00000368299.7:c.1698+14G>A | ENSP00000357282.3:n.1698+14G>A | |
| ENST00000368300.8:c.1698+14G>A | ENSP00000357283.4:n.1698+14G>A | |
| ENST00000368301.6:c.1712G>A | ENSP00000357284.2:p.Arg571His | |
| ENST00000448611.6:c.1362+14G>A | ENSP00000395597.2:n.1362+14G>A | |
| ENST00000473598.6:c.1401+14G>A | ENSP00000421821.1:n.1401+14G>A | |
| ENST00000496738.5:n.1181G>A | ||
| ENST00000498722.2:n.944G>A | ||
| ENST00000506981.1:n.282+14G>A | ||
| ENST00000508500.1:c.486+525G>A | ENSP00000424977.1:n.486+525G>A | |
| NM_001257374.2:c.1362+14G>A | NP_001244303.1:n.1362+14G>A | |
| NM_001282624.1:c.1469G>A | NP_001269553.1:p.Arg490His | |
| NM_001282625.1:c.1712G>A | NP_001269554.1:p.Arg571His | |
| NM_001282626.1:c.1698+14G>A | NP_001269555.1:n.1698+14G>A | |
| NM_005572.3:c.1712G>A , LRG_254t1:c.1712G>A | NP_005563.1:p.Arg571His | |
| NM_170707.3:c.1698+14G>A | NP_733821.1:n.1698+14G>A | |
| NM_170708.3:c.1608+525G>A | NP_733822.1:n.1608+525G>A | |
| XM_011509533.1:c.1362+14G>A | XP_011507835.1:n.1362+14G>A | |
| XM_011509534.1:c.1074+14G>A | XP_011507836.1:n.1074+14G>A | |
| XR_921781.1:n.1987+14G>A | ||
| XM_011509534.2:c.1074+14G>A | XP_011507836.1:n.1074+14G>A | |
| XR_921781.2:n.1985+14G>A | ||
| NM_170707.4:c.1698+14G>A MANE Select | NP_733821.1:n.1698+14G>A | |
| NM_001257374.3:c.1362+14G>A | NP_001244303.1:n.1362+14G>A | |
| NM_001282626.2:c.1698+14G>A | NP_001269555.1:n.1698+14G>A | |
| NM_001282624.2:c.1469G>A | NP_001269553.1:p.Arg490His | |
| NM_001282625.2:c.1712G>A | NP_001269554.1:p.Arg571His | |
| NM_005572.4:c.1712G>A MANE Plus Clinical | NP_005563.1:p.Arg571His | |
| NM_170708.4:c.1608+525G>A | NP_733822.1:n.1608+525G>A |