Linked Data
ClinVar Variation Id:
140915
ClinVar RCV Id:
RCV000129173
RCV000211952
RCV000204231
RCV001704053
RCV001257469
RCV002225424
RCV001798434
RCV003492586
dbSNP Id:
rs56123940
ExAC:
11:108115601 G / A
gnomAD v2:
11-108115601-G-A
gnomAD v3:
11-108244874-G-A
gnomAD v4:
11-108244874-G-A
PubMed:
PMID:19404735
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.108244874G>A , CM000673.2:g.108244874G>A | GRCh38 |
| NC_000011.9:g.108115601G>A , CM000673.1:g.108115601G>A | GRCh37 |
| NC_000011.8:g.107620811G>A | NCBI36 |
| NG_009830.1:g.27043G>A , LRG_135:g.27043G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000452508.7:c.749G>A | ENSP00000388058.2:p.Arg250Gln | |
| ENST00000713593.1:c.*220G>A | ENSP00000518889.1:n.*220G>A | |
| ENST00000278616.9:c.749G>A | ENSP00000278616.4:p.Arg250Gln | |
| ENST00000682430.1:n.848G>A | ||
| ENST00000682516.1:n.883G>A | ||
| ENST00000682956.1:n.883G>A | ||
| ENST00000683100.1:n.3096G>A | ||
| ENST00000683174.1:n.899G>A | ||
| ENST00000683605.1:n.244G>A | ||
| ENST00000684037.1:c.749G>A | ENSP00000508245.1:p.Arg250Gln | |
| ENST00000684061.1:n.883G>A | ||
| ENST00000684179.1:n.718G>A | ||
| ENST00000527805.6:c.749G>A | ENSP00000435747.2:p.Arg250Gln | |
| ENST00000675595.1:c.584G>A | ENSP00000502563.1:p.Arg195Gln | |
| ENST00000675843.1:c.749G>A MANE Select | ENSP00000501606.1:p.Arg250Gln | |
| ENST00000278616.8:c.749G>A | ENSP00000278616.4:p.Arg250Gln | |
| ENST00000452508.6:c.749G>A | ENSP00000388058.2:p.Arg250Gln | |
| ENST00000527805.5:c.749G>A | ENSP00000435747.1:p.Arg250Gln | |
| NM_000051.3:c.749G>A , LRG_135t1:c.749G>A | NP_000042.3:p.Arg250Gln | |
| XM_005271561.3:c.749G>A | XP_005271618.2:p.Arg250Gln | |
| XM_005271562.3:c.749G>A | XP_005271619.2:p.Arg250Gln | |
| XM_006718843.2:c.749G>A | XP_006718906.1:p.Arg250Gln | |
| XM_011542840.1:c.749G>A | XP_011541142.1:p.Arg250Gln | |
| XM_011542841.1:c.749G>A | XP_011541143.1:p.Arg250Gln | |
| XM_011542842.1:c.584G>A | XP_011541144.1:p.Arg195Gln | |
| XM_011542843.1:c.749G>A | XP_011541145.1:p.Arg250Gln | |
| XM_011542844.1:c.-296G>A | XP_011541146.1:n.-296G>A | |
| XM_011542846.1:c.749G>A | XP_011541148.1:p.Arg250Gln | |
| NM_001351834.1:c.749G>A | NP_001338763.1:p.Arg250Gln | |
| XM_005271562.5:c.749G>A | XP_005271619.2:p.Arg250Gln | |
| XM_006718843.4:c.749G>A | XP_006718906.1:p.Arg250Gln | |
| XM_011542840.3:c.749G>A | XP_011541142.1:p.Arg250Gln | |
| XM_011542842.3:c.584G>A | XP_011541144.1:p.Arg195Gln | |
| XM_011542843.2:c.749G>A | XP_011541145.1:p.Arg250Gln | |
| XM_011542844.3:c.-296G>A | XP_011541146.1:n.-296G>A | |
| XM_017017789.2:c.749G>A | XP_016873278.1:p.Arg250Gln | |
| XM_017017790.2:c.749G>A | XP_016873279.1:p.Arg250Gln | |
| XM_017017791.1:c.749G>A | XP_016873280.1:p.Arg250Gln | |
| XM_017017792.2:c.749G>A | XP_016873281.1:p.Arg250Gln | |
| XR_002957150.1:n.1482G>A | ||
| NM_001351834.2:c.749G>A | NP_001338763.1:p.Arg250Gln | |
| NM_000051.4:c.749G>A MANE Select | NP_000042.3:p.Arg250Gln |