Linked Data
ClinVar Variation Id:
128456
dbSNP Id:
rs1800058
ExAC:
11:108160350 C / T
gnomAD v2:
11-108160350-C-T
gnomAD v3:
11-108289623-C-T
gnomAD v4:
11-108289623-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.108289623C>T , CM000673.2:g.108289623C>T | GRCh38 |
| NC_000011.9:g.108160350C>T , CM000673.1:g.108160350C>T | GRCh37 |
| NC_000011.8:g.107665560C>T | NCBI36 |
| NG_009830.1:g.71792C>T , LRG_135:g.71792C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000452508.7:c.4258C>T | ENSP00000388058.2:p.Leu1420Phe | |
| ENST00000713593.1:c.*3729C>T | ENSP00000518889.1:n.*3729C>T | |
| ENST00000278616.9:c.4258C>T | ENSP00000278616.4:p.Leu1420Phe | |
| ENST00000533733.6:n.1521C>T | ||
| ENST00000683174.1:n.4408C>T | ||
| ENST00000527805.6:c.4258C>T | ENSP00000435747.2:p.Leu1420Phe | |
| ENST00000675595.1:c.4093C>T | ENSP00000502563.1:p.Leu1365Phe | |
| ENST00000675843.1:c.4258C>T MANE Select | ENSP00000501606.1:p.Leu1420Phe | |
| ENST00000278616.8:c.4258C>T | ENSP00000278616.4:p.Leu1420Phe | |
| ENST00000452508.6:c.4258C>T | ENSP00000388058.2:p.Leu1420Phe | |
| ENST00000524792.5:n.473C>T | ||
| ENST00000531525.2:c.265C>T | ENSP00000434327.2:p.Leu89Phe | |
| ENST00000533733.5:n.687C>T | ||
| NM_000051.3:c.4258C>T , LRG_135t1:c.4258C>T | NP_000042.3:p.Leu1420Phe | |
| XM_005271561.3:c.4258C>T | XP_005271618.2:p.Leu1420Phe | |
| XM_005271562.3:c.4258C>T | XP_005271619.2:p.Leu1420Phe | |
| XM_006718843.2:c.4258C>T | XP_006718906.1:p.Leu1420Phe | |
| XM_006718845.1:c.214C>T | XP_006718908.1:p.Leu72Phe | |
| XM_011542840.1:c.4258C>T | XP_011541142.1:p.Leu1420Phe | |
| XM_011542841.1:c.4258C>T | XP_011541143.1:p.Leu1420Phe | |
| XM_011542842.1:c.4093C>T | XP_011541144.1:p.Leu1365Phe | |
| XM_011542843.1:c.4258C>T | XP_011541145.1:p.Leu1420Phe | |
| XM_011542844.1:c.3214C>T | XP_011541146.1:p.Leu1072Phe | |
| XM_011542845.1:c.2950C>T | XP_011541147.1:p.Leu984Phe | |
| XM_011542846.1:c.4258C>T | XP_011541148.1:p.Leu1420Phe | |
| NM_001351834.1:c.4258C>T | NP_001338763.1:p.Leu1420Phe | |
| XM_005271562.5:c.4258C>T | XP_005271619.2:p.Leu1420Phe | |
| XM_006718843.4:c.4258C>T | XP_006718906.1:p.Leu1420Phe | |
| XM_006718845.2:c.214C>T | XP_006718908.1:p.Leu72Phe | |
| XM_011542840.3:c.4258C>T | XP_011541142.1:p.Leu1420Phe | |
| XM_011542842.3:c.4093C>T | XP_011541144.1:p.Leu1365Phe | |
| XM_011542843.2:c.4258C>T | XP_011541145.1:p.Leu1420Phe | |
| XM_011542844.3:c.3214C>T | XP_011541146.1:p.Leu1072Phe | |
| XM_011542845.2:c.2950C>T | XP_011541147.1:p.Leu984Phe | |
| XM_017017789.2:c.4258C>T | XP_016873278.1:p.Leu1420Phe | |
| XM_017017790.2:c.4258C>T | XP_016873279.1:p.Leu1420Phe | |
| XM_017017791.1:c.4258C>T | XP_016873280.1:p.Leu1420Phe | |
| XM_017017792.2:c.4258C>T | XP_016873281.1:p.Leu1420Phe | |
| XR_002957150.1:n.4991C>T | ||
| NM_001351834.2:c.4258C>T | NP_001338763.1:p.Leu1420Phe | |
| NM_000051.4:c.4258C>T MANE Select | NP_000042.3:p.Leu1420Phe |