Linked Data
ClinVar Variation Id:
326892
dbSNP Id:
rs151034190
ExAC:
18:46623873 A / G
gnomAD v2:
18-46623873-A-G
gnomAD v3:
18-49097503-A-G
gnomAD v4:
18-49097503-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.49097503A>G , CM000680.2:g.49097503A>G | GRCh38 |
| NC_000018.9:g.46623873A>G , CM000680.1:g.46623873A>G | GRCh37 |
| NC_000018.8:g.44877871A>G | NCBI36 |
| NG_009239.1:g.368207T>C | |
| NG_009239.2:g.368231T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000675505.1:c.1924T>C MANE Select | ENSP00000501694.1:p.Phe642Leu | |
| ENST00000269445.10:c.1759T>C | ENSP00000269445.6:p.Phe587Leu | |
| ENST00000442713.6:c.1189T>C | ENSP00000395942.2:p.Phe397Leu | |
| ENST00000583270.1:n.274-5T>C | ||
| NM_017653.3:c.1759T>C | NP_060123.3:p.Phe587Leu | |
| XM_006722488.2:c.1759T>C | XP_006722551.1:p.Phe587Leu | |
| XM_006722490.2:c.*52T>C | XP_006722553.1:n.*52T>C | |
| XM_011526036.1:c.1759T>C | XP_011524338.1:p.Phe587Leu | |
| XM_011526037.1:c.1756T>C | XP_011524339.1:p.Phe586Leu | |
| XM_011526038.1:c.1756T>C | XP_011524340.1:p.Phe586Leu | |
| XM_011526039.1:c.1759T>C | XP_011524341.1:p.Phe587Leu | |
| XM_011526040.1:c.1591T>C | XP_011524342.1:p.Phe531Leu | |
| XM_011526041.1:c.1576T>C | XP_011524343.1:p.Phe526Leu | |
| XM_011526042.1:c.1759T>C | XP_011524344.1:p.Phe587Leu | |
| XM_011526043.1:c.*27T>C | XP_011524345.1:n.*27T>C | |
| NM_001353210.1:c.1756T>C | NP_001340139.1:p.Phe586Leu | |
| NM_001353211.1:c.1756T>C | NP_001340140.1:p.Phe586Leu | |
| NM_001353212.1:c.1921T>C | NP_001340141.1:p.Phe641Leu | |
| NM_001353213.1:c.1921T>C | NP_001340142.1:p.Phe641Leu | |
| NM_001353214.1:c.1924T>C | NP_001340143.1:p.Phe642Leu | |
| NM_001353215.1:c.1741T>C | NP_001340144.1:p.Phe581Leu | |
| NM_001353216.1:c.1576T>C | NP_001340145.1:p.Phe526Leu | |
| NM_017653.4:c.1759T>C | NP_060123.3:p.Phe587Leu | |
| XM_006722488.3:c.1759T>C | XP_006722551.1:p.Phe587Leu | |
| XM_011526036.2:c.1759T>C | XP_011524338.1:p.Phe587Leu | |
| XM_011526038.2:c.1756T>C | XP_011524340.1:p.Phe586Leu | |
| XM_011526039.2:c.1759T>C | XP_011524341.1:p.Phe587Leu | |
| XM_011526041.2:c.1576T>C | XP_011524343.1:p.Phe526Leu | |
| XM_011526042.2:c.1759T>C | XP_011524344.1:p.Phe587Leu | |
| XM_017025795.1:c.1753T>C | XP_016881284.1:p.Phe585Leu | |
| XM_017025796.2:c.1579T>C | XP_016881285.1:p.Phe527Leu | |
| XM_017025800.2:c.1573T>C | XP_016881289.1:p.Phe525Leu | |
| XM_017025801.1:c.1570T>C | XP_016881290.1:p.Phe524Leu | |
| XR_002958177.1:n.2224T>C | ||
| NM_001353210.3:c.1756T>C | NP_001340139.1:p.Phe586Leu | |
| NM_001353211.3:c.1756T>C | NP_001340140.1:p.Phe586Leu | |
| NM_001353212.3:c.1921T>C | NP_001340141.1:p.Phe641Leu | |
| NM_001353213.3:c.1921T>C | NP_001340142.1:p.Phe641Leu | |
| NM_001353214.3:c.1924T>C MANE Select | NP_001340143.1:p.Phe642Leu | |
| NM_001353215.3:c.1741T>C | NP_001340144.1:p.Phe581Leu | |
| NM_001353216.3:c.1576T>C | NP_001340145.1:p.Phe526Leu | |
| NM_001374428.1:c.1924T>C | NP_001361357.1:p.Phe642Leu | |
| NM_001374429.1:c.1918T>C | NP_001361358.1:p.Phe640Leu | |
| NM_001374430.1:c.1924T>C | NP_001361359.1:p.Phe642Leu | |
| NM_001374431.1:c.1911+21241T>C | NP_001361360.1:n.1911+21241T>C | |
| NM_001374432.1:c.1798T>C | NP_001361361.1:p.Phe600Leu | |
| NM_001374433.1:c.1759T>C | NP_001361362.1:p.Phe587Leu | |
| NM_001374434.1:c.1746+21241T>C | NP_001361363.1:n.1746+21241T>C | |
| NM_001374435.1:c.1743+21241T>C | NP_001361364.1:n.1743+21241T>C | |
| NM_001374436.1:c.1633T>C | NP_001361365.1:p.Phe545Leu | |
| NM_001374437.1:c.1576T>C | NP_001361366.1:p.Phe526Leu | |
| NM_001374438.1:c.1573T>C | NP_001361367.1:p.Phe525Leu | |
| NM_001374439.1:c.1570T>C | NP_001361368.1:p.Phe524Leu | |
| NM_001374440.1:c.1531T>C | NP_001361369.1:p.Phe511Leu | |
| NM_001374441.1:c.1354T>C | NP_001361370.1:p.Phe452Leu | |
| NM_001374442.1:c.1189T>C | NP_001361371.1:p.Phe397Leu | |
| NM_001374443.1:c.1186T>C | NP_001361372.1:p.Phe396Leu | |
| NM_001374444.1:c.1006T>C | NP_001361373.1:p.Phe336Leu | |
| NM_017653.6:c.1759T>C | NP_060123.3:p.Phe587Leu |