Linked Data
ClinVar Variation Id:
132714
ClinVar RCV Id:
RCV000130976
RCV000119159
RCV002225350
RCV000506744
RCV001798372
RCV003315705
RCV001357804
RCV001705878
dbSNP Id:
rs4987943
ExAC:
11:108121446 A / G
gnomAD v2:
11-108121446-A-G
gnomAD v3:
11-108250719-A-G
gnomAD v4:
11-108250719-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.108250719A>G , CM000673.2:g.108250719A>G | GRCh38 |
| NC_000011.9:g.108121446A>G , CM000673.1:g.108121446A>G | GRCh37 |
| NC_000011.8:g.107626656A>G | NCBI36 |
| NG_009830.1:g.32888A>G , LRG_135:g.32888A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000452508.7:c.1254A>G | ENSP00000388058.2:p.Gln418= | |
| ENST00000713593.1:c.*725A>G | ENSP00000518889.1:n.*725A>G | |
| ENST00000278616.9:c.1254A>G | ENSP00000278616.4:p.Gln418= | |
| ENST00000682516.1:n.1388A>G | ||
| ENST00000682956.1:n.1388A>G | ||
| ENST00000683174.1:n.1404A>G | ||
| ENST00000683605.1:n.749A>G | ||
| ENST00000684037.1:c.*189A>G | ENSP00000508245.1:n.*189A>G | |
| ENST00000684061.1:n.1388A>G | ||
| ENST00000684179.1:n.1223A>G | ||
| ENST00000527805.6:c.1254A>G | ENSP00000435747.2:p.Gln418= | |
| ENST00000675595.1:c.1089A>G | ENSP00000502563.1:p.Gln363= | |
| ENST00000675843.1:c.1254A>G MANE Select | ENSP00000501606.1:p.Gln418= | |
| ENST00000278616.8:c.1254A>G | ENSP00000278616.4:p.Gln418= | |
| ENST00000452508.6:c.1254A>G | ENSP00000388058.2:p.Gln418= | |
| ENST00000527805.5:c.1254A>G | ENSP00000435747.1:p.Gln418= | |
| NM_000051.3:c.1254A>G , LRG_135t1:c.1254A>G | NP_000042.3:p.Gln418= | |
| XM_005271561.3:c.1254A>G | XP_005271618.2:p.Gln418= | |
| XM_005271562.3:c.1254A>G | XP_005271619.2:p.Gln418= | |
| XM_006718843.2:c.1254A>G | XP_006718906.1:p.Gln418= | |
| XM_011542840.1:c.1254A>G | XP_011541142.1:p.Gln418= | |
| XM_011542841.1:c.1254A>G | XP_011541143.1:p.Gln418= | |
| XM_011542842.1:c.1089A>G | XP_011541144.1:p.Gln363= | |
| XM_011542843.1:c.1254A>G | XP_011541145.1:p.Gln418= | |
| XM_011542844.1:c.210A>G | XP_011541146.1:p.Gln70= | |
| XM_011542845.1:c.-55A>G | XP_011541147.1:n.-55A>G | |
| XM_011542846.1:c.1254A>G | XP_011541148.1:p.Gln418= | |
| NM_001351834.1:c.1254A>G | NP_001338763.1:p.Gln418= | |
| XM_005271562.5:c.1254A>G | XP_005271619.2:p.Gln418= | |
| XM_006718843.4:c.1254A>G | XP_006718906.1:p.Gln418= | |
| XM_011542840.3:c.1254A>G | XP_011541142.1:p.Gln418= | |
| XM_011542842.3:c.1089A>G | XP_011541144.1:p.Gln363= | |
| XM_011542843.2:c.1254A>G | XP_011541145.1:p.Gln418= | |
| XM_011542844.3:c.210A>G | XP_011541146.1:p.Gln70= | |
| XM_011542845.2:c.-55A>G | XP_011541147.1:n.-55A>G | |
| XM_017017789.2:c.1254A>G | XP_016873278.1:p.Gln418= | |
| XM_017017790.2:c.1254A>G | XP_016873279.1:p.Gln418= | |
| XM_017017791.1:c.1254A>G | XP_016873280.1:p.Gln418= | |
| XM_017017792.2:c.1254A>G | XP_016873281.1:p.Gln418= | |
| XR_002957150.1:n.1987A>G | ||
| NM_001351834.2:c.1254A>G | NP_001338763.1:p.Gln418= | |
| NM_000051.4:c.1254A>G MANE Select | NP_000042.3:p.Gln418= |