Linked Data
ClinVar Variation Id:
1613388
ClinVar RCV Id:
RCV002158245
dbSNP Id:
rs2135975851
MyVariant Identifiers:
chr11:g.108178631G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.108307904G>A , CM000673.2:g.108307904G>A | GRCh38 |
| NC_000011.9:g.108178631G>A , CM000673.1:g.108178631G>A | GRCh37 |
| NC_000011.8:g.107683841G>A | NCBI36 |
| NG_009830.1:g.90073G>A , LRG_135:g.90073G>A | |
| NG_054724.1:g.166929C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000452508.7:c.5682G>A | ENSP00000388058.2:p.Glu1894= | |
| ENST00000713593.1:c.*5153G>A | ENSP00000518889.1:n.*5153G>A | |
| ENST00000278616.9:c.5682G>A | ENSP00000278616.4:p.Glu1894= | |
| ENST00000525056.2:n.101G>A | ||
| ENST00000682286.1:n.439G>A | ||
| ENST00000682302.1:n.100G>A | ||
| ENST00000683174.1:n.7166G>A | ||
| ENST00000683524.1:n.906G>A | ||
| ENST00000684152.1:n.1396G>A | ||
| ENST00000527805.6:c.*746G>A | ENSP00000435747.2:n.*746G>A | |
| ENST00000675595.1:c.*746G>A | ENSP00000502563.1:n.*746G>A | |
| ENST00000675843.1:c.5682G>A MANE Select | ENSP00000501606.1:p.Glu1894= | |
| ENST00000278616.8:c.5682G>A | ENSP00000278616.4:p.Glu1894= | |
| ENST00000452508.6:c.5682G>A | ENSP00000388058.2:p.Glu1894= | |
| ENST00000524792.5:n.1897G>A | ||
| ENST00000529588.5:c.187-2256G>A | ||
| ENST00000533690.5:n.1086G>A | ||
| NM_000051.3:c.5682G>A , LRG_135t1:c.5682G>A | NP_000042.3:p.Glu1894= | |
| XM_005271561.3:c.5682G>A | XP_005271618.2:p.Glu1894= | |
| XM_005271562.3:c.5682G>A | XP_005271619.2:p.Glu1894= | |
| XM_006718843.2:c.5682G>A | XP_006718906.1:p.Glu1894= | |
| XM_006718845.1:c.1638G>A | XP_006718908.1:p.Glu546= | |
| XM_011542840.1:c.5682G>A | XP_011541142.1:p.Glu1894= | |
| XM_011542841.1:c.5682G>A | XP_011541143.1:p.Glu1894= | |
| XM_011542842.1:c.5517G>A | XP_011541144.1:p.Glu1839= | |
| XM_011542843.1:c.5682G>A | XP_011541145.1:p.Glu1894= | |
| XM_011542844.1:c.4638G>A | XP_011541146.1:p.Glu1546= | |
| XM_011542845.1:c.4374G>A | XP_011541147.1:p.Glu1458= | |
| XM_011542847.1:c.753G>A | XP_011541149.1:p.Glu251= | |
| NM_001351834.1:c.5682G>A | NP_001338763.1:p.Glu1894= | |
| XM_005271562.5:c.5682G>A | XP_005271619.2:p.Glu1894= | |
| XM_006718843.4:c.5682G>A | XP_006718906.1:p.Glu1894= | |
| XM_006718845.2:c.1638G>A | XP_006718908.1:p.Glu546= | |
| XM_011542840.3:c.5682G>A | XP_011541142.1:p.Glu1894= | |
| XM_011542842.3:c.5517G>A | XP_011541144.1:p.Glu1839= | |
| XM_011542843.2:c.5682G>A | XP_011541145.1:p.Glu1894= | |
| XM_011542844.3:c.4638G>A | XP_011541146.1:p.Glu1546= | |
| XM_011542845.2:c.4374G>A | XP_011541147.1:p.Glu1458= | |
| XM_017017789.2:c.5682G>A | XP_016873278.1:p.Glu1894= | |
| XM_017017790.2:c.5682G>A | XP_016873279.1:p.Glu1894= | |
| XM_017017791.1:c.5682G>A | XP_016873280.1:p.Glu1894= | |
| XR_002957150.1:n.6282G>A | ||
| NM_001351834.2:c.5682G>A | NP_001338763.1:p.Glu1894= | |
| NM_000051.4:c.5682G>A MANE Select | NP_000042.3:p.Glu1894= |