Linked Data
ClinVar Variation Id:
219462
dbSNP Id:
rs769872474
ExAC:
11:108173670 A / T
gnomAD v2:
11-108173670-A-T
gnomAD v3:
11-108302943-A-T
gnomAD v4:
11-108302943-A-T
PubMed:
PMID:19781682
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.108302943A>T , CM000673.2:g.108302943A>T | GRCh38 |
| NC_000011.9:g.108173670A>T , CM000673.1:g.108173670A>T | GRCh37 |
| NC_000011.8:g.107678880A>T | NCBI36 |
| NG_009830.1:g.85112A>T , LRG_135:g.85112A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000452508.7:c.5410A>T | ENSP00000388058.2:p.Ile1804Phe | |
| ENST00000713593.1:c.*4881A>T | ENSP00000518889.1:n.*4881A>T | |
| ENST00000278616.9:c.5410A>T | ENSP00000278616.4:p.Ile1804Phe | |
| ENST00000683174.1:n.6894A>T | ||
| ENST00000683524.1:n.634A>T | ||
| ENST00000684152.1:n.1124A>T | ||
| ENST00000527805.6:c.*474A>T | ENSP00000435747.2:n.*474A>T | |
| ENST00000675595.1:c.*474A>T | ENSP00000502563.1:n.*474A>T | |
| ENST00000675843.1:c.5410A>T MANE Select | ENSP00000501606.1:p.Ile1804Phe | |
| ENST00000278616.8:c.5410A>T | ENSP00000278616.4:p.Ile1804Phe | |
| ENST00000452508.6:c.5410A>T | ENSP00000388058.2:p.Ile1804Phe | |
| ENST00000524792.5:n.1625A>T | ||
| ENST00000533690.5:n.814A>T | ||
| ENST00000534625.1:n.639A>T | ||
| NM_000051.3:c.5410A>T , LRG_135t1:c.5410A>T | NP_000042.3:p.Ile1804Phe | |
| XM_005271561.3:c.5410A>T | XP_005271618.2:p.Ile1804Phe | |
| XM_005271562.3:c.5410A>T | XP_005271619.2:p.Ile1804Phe | |
| XM_006718843.2:c.5410A>T | XP_006718906.1:p.Ile1804Phe | |
| XM_006718845.1:c.1366A>T | XP_006718908.1:p.Ile456Phe | |
| XM_011542840.1:c.5410A>T | XP_011541142.1:p.Ile1804Phe | |
| XM_011542841.1:c.5410A>T | XP_011541143.1:p.Ile1804Phe | |
| XM_011542842.1:c.5245A>T | XP_011541144.1:p.Ile1749Phe | |
| XM_011542843.1:c.5410A>T | XP_011541145.1:p.Ile1804Phe | |
| XM_011542844.1:c.4366A>T | XP_011541146.1:p.Ile1456Phe | |
| XM_011542845.1:c.4102A>T | XP_011541147.1:p.Ile1368Phe | |
| XM_011542846.1:c.*68A>T | XP_011541148.1:n.*68A>T | |
| XM_011542847.1:c.481A>T | XP_011541149.1:p.Ile161Phe | |
| NM_001351834.1:c.5410A>T | NP_001338763.1:p.Ile1804Phe | |
| XM_005271562.5:c.5410A>T | XP_005271619.2:p.Ile1804Phe | |
| XM_006718843.4:c.5410A>T | XP_006718906.1:p.Ile1804Phe | |
| XM_006718845.2:c.1366A>T | XP_006718908.1:p.Ile456Phe | |
| XM_011542840.3:c.5410A>T | XP_011541142.1:p.Ile1804Phe | |
| XM_011542842.3:c.5245A>T | XP_011541144.1:p.Ile1749Phe | |
| XM_011542843.2:c.5410A>T | XP_011541145.1:p.Ile1804Phe | |
| XM_011542844.3:c.4366A>T | XP_011541146.1:p.Ile1456Phe | |
| XM_011542845.2:c.4102A>T | XP_011541147.1:p.Ile1368Phe | |
| XM_017017789.2:c.5410A>T | XP_016873278.1:p.Ile1804Phe | |
| XM_017017790.2:c.5410A>T | XP_016873279.1:p.Ile1804Phe | |
| XM_017017791.1:c.5410A>T | XP_016873280.1:p.Ile1804Phe | |
| XR_002957150.1:n.6010A>T | ||
| NM_001351834.2:c.5410A>T | NP_001338763.1:p.Ile1804Phe | |
| NM_000051.4:c.5410A>T MANE Select | NP_000042.3:p.Ile1804Phe |