Linked Data
ClinVar Variation Id:
48048
dbSNP Id:
rs4641
ExAC:
1:156107534 C / T
gnomAD v2:
1-156107534-C-T
gnomAD v3:
1-156137743-C-T
gnomAD v4:
1-156137743-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.156137743C>T , CM000663.2:g.156137743C>T | GRCh38 |
| NC_000001.10:g.156107534C>T , CM000663.1:g.156107534C>T | GRCh37 |
| NC_000001.9:g.154374158C>T | NCBI36 |
| NG_008692.2:g.60171C>T , LRG_254:g.60171C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000504687.7:c.1140C>T | ENSP00000426535.3:p.His380= | |
| ENST00000498722.3:n.930C>T | ||
| ENST00000682650.1:c.1608+511C>T | ENSP00000506904.1:n.1608+511C>T | |
| ENST00000683032.1:c.1698C>T | ENSP00000506771.1:p.His566= | |
| ENST00000683773.1:n.43C>T | ||
| ENST00000684195.1:c.*46C>T | ENSP00000508220.1:n.*46C>T | |
| ENST00000361308.9:c.1698C>T | ENSP00000355292.6:p.His566= | |
| ENST00000368300.9:c.1698C>T MANE Select | ENSP00000357283.4:p.His566= | |
| ENST00000496738.6:n.2157C>T | ||
| ENST00000674518.1:c.*1048C>T | ENSP00000502261.1:n.*1048C>T | |
| ENST00000674600.1:c.*1497C>T | ENSP00000501666.1:n.*1497C>T | |
| ENST00000674720.1:c.*260C>T | ENSP00000502798.1:n.*260C>T | |
| ENST00000675431.1:n.1391C>T | ||
| ENST00000675455.1:c.*1498C>T | ENSP00000501795.1:n.*1498C>T | |
| ENST00000675667.1:c.1698C>T | ENSP00000501803.1:p.His566= | |
| ENST00000675874.1:c.*1169C>T | ENSP00000501851.1:n.*1169C>T | |
| ENST00000675881.1:c.*709C>T | ENSP00000501670.1:n.*709C>T | |
| ENST00000675939.1:c.1698C>T | ENSP00000502256.1:p.His566= | |
| ENST00000675989.1:n.2557C>T | ||
| ENST00000676208.1:c.*801C>T | ENSP00000502468.1:n.*801C>T | |
| ENST00000676283.1:n.2494C>T | ||
| ENST00000676385.2:c.1608+511C>T | ENSP00000502091.1:n.1608+511C>T | |
| ENST00000676434.1:c.*709C>T | ENSP00000501648.1:n.*709C>T | |
| ENST00000677389.1:c.1698C>T MANE Plus Clinical | ENSP00000503633.1:p.His566= | |
| ENST00000347559.6:c.1608+511C>T | ENSP00000292304.3:n.1608+511C>T | |
| ENST00000361308.8:c.1443C>T | ENSP00000355292.5:p.His481= | |
| ENST00000368297.5:c.1455C>T | ENSP00000357280.1:p.His485= | |
| ENST00000368299.7:c.1698C>T | ENSP00000357282.3:p.His566= | |
| ENST00000368300.8:c.1698C>T | ENSP00000357283.4:p.His566= | |
| ENST00000368301.6:c.1698C>T | ENSP00000357284.2:p.His566= | |
| ENST00000448611.6:c.1362C>T | ENSP00000395597.2:p.His454= | |
| ENST00000473598.6:c.1401C>T | ENSP00000421821.1:p.His467= | |
| ENST00000496738.5:n.1167C>T | ||
| ENST00000498722.2:n.930C>T | ||
| ENST00000506981.1:n.282C>T | ||
| ENST00000508500.1:c.486+511C>T | ENSP00000424977.1:n.486+511C>T | |
| NM_001257374.2:c.1362C>T | NP_001244303.1:p.His454= | |
| NM_001282624.1:c.1455C>T | NP_001269553.1:p.His485= | |
| NM_001282625.1:c.1698C>T | NP_001269554.1:p.His566= | |
| NM_001282626.1:c.1698C>T | NP_001269555.1:p.His566= | |
| NM_005572.3:c.1698C>T , LRG_254t1:c.1698C>T | NP_005563.1:p.His566= | |
| NM_170707.3:c.1698C>T | NP_733821.1:p.His566= | |
| NM_170708.3:c.1608+511C>T | NP_733822.1:n.1608+511C>T | |
| XM_011509533.1:c.1362C>T | XP_011507835.1:p.His454= | |
| XM_011509534.1:c.1074C>T | XP_011507836.1:p.His358= | |
| XR_921781.1:n.1987C>T | ||
| XM_011509534.2:c.1074C>T | XP_011507836.1:p.His358= | |
| XR_921781.2:n.1985C>T | ||
| NM_170707.4:c.1698C>T MANE Select | NP_733821.1:p.His566= | |
| NM_001257374.3:c.1362C>T | NP_001244303.1:p.His454= | |
| NM_001282626.2:c.1698C>T | NP_001269555.1:p.His566= | |
| NM_001282624.2:c.1455C>T | NP_001269553.1:p.His485= | |
| NM_001282625.2:c.1698C>T | NP_001269554.1:p.His566= | |
| NM_005572.4:c.1698C>T MANE Plus Clinical | NP_005563.1:p.His566= | |
| NM_170708.4:c.1608+511C>T | NP_733822.1:n.1608+511C>T |