Linked Data
ClinVar Variation Id:
2582286
ClinVar RCV Id:
RCV003332987
dbSNP Id:
rs780816003
COSMIC:
COSM1235426
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.108299838G>A , CM000673.2:g.108299838G>A | GRCh38 |
| NC_000011.9:g.108170565G>A , CM000673.1:g.108170565G>A | GRCh37 |
| NC_000011.8:g.107675775G>A | NCBI36 |
| NG_009830.1:g.82007G>A , LRG_135:g.82007G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000452508.7:c.5130G>A | ENSP00000388058.2:p.Trp1710Ter | |
| ENST00000713593.1:c.*4601G>A | ENSP00000518889.1:n.*4601G>A | |
| ENST00000278616.9:c.5130G>A | ENSP00000278616.4:p.Trp1710Ter | |
| ENST00000683174.1:n.6614G>A | ||
| ENST00000683524.1:n.354G>A | ||
| ENST00000684152.1:n.844G>A | ||
| ENST00000527805.6:c.*194G>A | ENSP00000435747.2:n.*194G>A | |
| ENST00000675595.1:c.*194G>A | ENSP00000502563.1:n.*194G>A | |
| ENST00000675843.1:c.5130G>A MANE Select | ENSP00000501606.1:p.Trp1710Ter | |
| ENST00000278616.8:c.5130G>A | ENSP00000278616.4:p.Trp1710Ter | |
| ENST00000452508.6:c.5130G>A | ENSP00000388058.2:p.Trp1710Ter | |
| ENST00000524792.5:n.1345G>A | ||
| ENST00000533690.5:n.534G>A | ||
| ENST00000534625.1:n.359G>A | ||
| NM_000051.3:c.5130G>A , LRG_135t1:c.5130G>A | NP_000042.3:p.Trp1710Ter | |
| XM_005271561.3:c.5130G>A | XP_005271618.2:p.Trp1710Ter | |
| XM_005271562.3:c.5130G>A | XP_005271619.2:p.Trp1710Ter | |
| XM_006718843.2:c.5130G>A | XP_006718906.1:p.Trp1710Ter | |
| XM_006718845.1:c.1086G>A | XP_006718908.1:p.Trp362Ter | |
| XM_011542840.1:c.5130G>A | XP_011541142.1:p.Trp1710Ter | |
| XM_011542841.1:c.5130G>A | XP_011541143.1:p.Trp1710Ter | |
| XM_011542842.1:c.4965G>A | XP_011541144.1:p.Trp1655Ter | |
| XM_011542843.1:c.5130G>A | XP_011541145.1:p.Trp1710Ter | |
| XM_011542844.1:c.4086G>A | XP_011541146.1:p.Trp1362Ter | |
| XM_011542845.1:c.3822G>A | XP_011541147.1:p.Trp1274Ter | |
| XM_011542846.1:c.5130G>A | XP_011541148.1:p.Trp1710Ter | |
| XM_011542847.1:c.201G>A | XP_011541149.1:p.Trp67Ter | |
| NM_001351834.1:c.5130G>A | NP_001338763.1:p.Trp1710Ter | |
| XM_005271562.5:c.5130G>A | XP_005271619.2:p.Trp1710Ter | |
| XM_006718843.4:c.5130G>A | XP_006718906.1:p.Trp1710Ter | |
| XM_006718845.2:c.1086G>A | XP_006718908.1:p.Trp362Ter | |
| XM_011542840.3:c.5130G>A | XP_011541142.1:p.Trp1710Ter | |
| XM_011542842.3:c.4965G>A | XP_011541144.1:p.Trp1655Ter | |
| XM_011542843.2:c.5130G>A | XP_011541145.1:p.Trp1710Ter | |
| XM_011542844.3:c.4086G>A | XP_011541146.1:p.Trp1362Ter | |
| XM_011542845.2:c.3822G>A | XP_011541147.1:p.Trp1274Ter | |
| XM_017017789.2:c.5130G>A | XP_016873278.1:p.Trp1710Ter | |
| XM_017017790.2:c.5130G>A | XP_016873279.1:p.Trp1710Ter | |
| XM_017017791.1:c.5130G>A | XP_016873280.1:p.Trp1710Ter | |
| XM_017017792.2:c.5130G>A | XP_016873281.1:p.Trp1710Ter | |
| XR_002957150.1:n.5730G>A | ||
| NM_001351834.2:c.5130G>A | NP_001338763.1:p.Trp1710Ter | |
| NM_000051.4:c.5130G>A MANE Select | NP_000042.3:p.Trp1710Ter |