Linked Data
ClinVar Variation Id:
868514
dbSNP Id:
rs587781472
gnomAD v2:
17-41219697-A-G
gnomAD v4:
17-43067680-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43067680A>G , CM000679.2:g.43067680A>G | GRCh38 |
| NC_000017.10:g.41219697A>G , CM000679.1:g.41219697A>G | GRCh37 |
| NC_000017.9:g.38473223A>G | NCBI36 |
| NG_005905.2:g.150304T>C , LRG_292:g.150304T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461574.2:c.4999T>C | ENSP00000417241.2:p.Phe1667Leu | |
| ENST00000470026.6:c.5002T>C | ENSP00000419274.2:p.Phe1668Leu | |
| ENST00000473961.6:c.4876T>C | ENSP00000420201.2:p.Phe1626Leu | |
| ENST00000476777.6:c.4996T>C | ENSP00000417554.2:p.Phe1666Leu | |
| ENST00000477152.6:c.4924T>C | ENSP00000419988.2:p.Phe1642Leu | |
| ENST00000478531.6:c.1690T>C | ENSP00000420412.2:p.Phe564Leu | |
| ENST00000489037.2:c.4924T>C | ENSP00000420781.2:p.Phe1642Leu | |
| ENST00000493919.6:c.1552T>C | ENSP00000418819.2:p.Phe518Leu | |
| ENST00000494123.6:c.5002T>C | ENSP00000419103.2:p.Phe1668Leu | |
| ENST00000497488.2:c.4114T>C | ENSP00000418986.2:p.Phe1372Leu | |
| ENST00000618469.2:c.5002T>C | ENSP00000478114.2:p.Phe1668Leu | |
| ENST00000634433.2:c.4879T>C | ENSP00000489431.2:p.Phe1627Leu | |
| ENST00000644379.2:c.5068T>C | ENSP00000496570.2:p.Phe1690Leu | |
| ENST00000644555.2:c.1552T>C | ENSP00000494614.2:p.Phe518Leu | |
| ENST00000652672.2:c.4861T>C | ENSP00000498906.2:p.Phe1621Leu | |
| ENST00000484087.6:c.1564T>C | ENSP00000419481.2:p.Phe522Leu | |
| ENST00000357654.9:c.5002T>C MANE Select | ENSP00000350283.3:p.Phe1668Leu | |
| ENST00000471181.7:c.5065T>C | ENSP00000418960.2:p.Phe1689Leu | |
| ENST00000644379.1:c.1389T>C | ||
| ENST00000352993.7:c.1576T>C | ENSP00000312236.5:p.Phe526Leu | |
| ENST00000357654.7:c.5002T>C | ENSP00000350283.3:p.Phe1668Leu | |
| ENST00000461221.5:c.*4785T>C | ENSP00000418548.1:n.*4785T>C | |
| ENST00000468300.5:c.1690T>C | ENSP00000417148.1:p.Phe564Leu | |
| ENST00000471181.6:c.5065T>C | ENSP00000418960.2:p.Phe1689Leu | |
| ENST00000472490.1:n.155T>C | ||
| ENST00000478531.5:c.1690T>C | ENSP00000420412.1:p.Phe564Leu | |
| ENST00000484087.5:c.1315T>C | ENSP00000419481.1:p.Phe439Leu | |
| ENST00000491747.6:c.1690T>C | ENSP00000420705.2:p.Phe564Leu | |
| ENST00000493795.5:c.4861T>C | ENSP00000418775.1:p.Phe1621Leu | |
| ENST00000493919.5:c.1552T>C | ENSP00000418819.1:p.Phe518Leu | |
| ENST00000586385.5:c.5-3729T>C | ENSP00000465818.1:n.5-3729T>C | |
| ENST00000591534.5:c.475T>C | ENSP00000467329.1:p.Phe159Leu | |
| ENST00000591849.5:c.-98-17490T>C | ENSP00000465347.1:n.-98-17490T>C | |
| NM_007294.3:c.5002T>C , LRG_292t1:c.5002T>C | NP_009225.1:p.Phe1668Leu | |
| NM_007297.3:c.4861T>C | NP_009228.2:p.Phe1621Leu | |
| NM_007298.3:c.1690T>C | NP_009229.2:p.Phe564Leu | |
| NM_007299.3:c.1690T>C | NP_009230.2:p.Phe564Leu | |
| NM_007300.3:c.5065T>C | NP_009231.2:p.Phe1689Leu | |
| NR_027676.1:n.5138T>C | ||
| NM_007294.4:c.5002T>C MANE Select | NP_009225.1:p.Phe1668Leu | |
| NM_007297.4:c.4861T>C | NP_009228.2:p.Phe1621Leu | |
| NM_007299.4:c.1690T>C | NP_009230.2:p.Phe564Leu | |
| NM_007300.4:c.5065T>C | NP_009231.2:p.Phe1689Leu | |
| NR_027676.2:n.5179T>C |