Linked Data
ClinVar Variation Id:
55646
dbSNP Id:
rs80357394
ExAC:
17:41247921 C / G
gnomAD v2:
17-41247921-C-G
gnomAD v3:
17-43095904-C-G
gnomAD v4:
17-43095904-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43095904C>G , CM000679.2:g.43095904C>G | GRCh38 |
| NC_000017.10:g.41247921C>G , CM000679.1:g.41247921C>G | GRCh37 |
| NC_000017.9:g.38501447C>G | NCBI36 |
| NG_005905.2:g.122080G>C , LRG_292:g.122080G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354071.8:n.676G>C | ||
| ENST00000461574.2:c.612G>C | ENSP00000417241.2:p.Leu204Phe | |
| ENST00000470026.6:c.612G>C | ENSP00000419274.2:p.Leu204Phe | |
| ENST00000473961.6:c.545-1044G>C | ENSP00000420201.2:n.545-1044G>C | |
| ENST00000476777.6:c.609G>C | ENSP00000417554.2:p.Leu203Phe | |
| ENST00000477152.6:c.534G>C | ENSP00000419988.2:p.Leu178Phe | |
| ENST00000478531.6:c.609G>C | ENSP00000420412.2:p.Leu203Phe | |
| ENST00000489037.2:c.534G>C | ENSP00000420781.2:p.Leu178Phe | |
| ENST00000493919.6:c.471G>C | ENSP00000418819.2:p.Leu157Phe | |
| ENST00000494123.6:c.612G>C | ENSP00000419103.2:p.Leu204Phe | |
| ENST00000497488.2:c.-218-1044G>C | ENSP00000418986.2:n.-218-1044G>C | |
| ENST00000618469.2:c.612G>C | ENSP00000478114.2:p.Leu204Phe | |
| ENST00000634433.2:c.548-1044G>C | ENSP00000489431.2:n.548-1044G>C | |
| ENST00000644379.2:c.612G>C | ENSP00000496570.2:p.Leu204Phe | |
| ENST00000644555.2:c.471G>C | ENSP00000494614.2:p.Leu157Phe | |
| ENST00000652672.2:c.471G>C | ENSP00000498906.2:p.Leu157Phe | |
| ENST00000484087.6:c.548-1044G>C | ENSP00000419481.2:n.548-1044G>C | |
| ENST00000700182.1:c.531G>C | ENSP00000514849.1:p.Leu177Phe | |
| ENST00000700183.1:c.*620G>C | ENSP00000514850.1:n.*620G>C | |
| ENST00000357654.9:c.612G>C MANE Select | ENSP00000350283.3:p.Leu204Phe | |
| ENST00000471181.7:c.612G>C | ENSP00000418960.2:p.Leu204Phe | |
| ENST00000642945.1:c.*486G>C | ENSP00000495897.1:n.*486G>C | |
| ENST00000652672.1:c.471G>C | ENSP00000498906.1:p.Leu157Phe | |
| ENST00000352993.7:c.612G>C | ENSP00000312236.5:p.Leu204Phe | |
| ENST00000354071.7:c.612G>C | ENSP00000326002.7:p.Leu204Phe | |
| ENST00000357654.7:c.612G>C | ENSP00000350283.3:p.Leu204Phe | |
| ENST00000461221.5:c.*395G>C | ENSP00000418548.1:n.*395G>C | |
| ENST00000468300.5:c.612G>C | ENSP00000417148.1:p.Leu204Phe | |
| ENST00000470026.5:c.612G>C | ENSP00000419274.1:p.Leu204Phe | |
| ENST00000471181.6:c.612G>C | ENSP00000418960.2:p.Leu204Phe | |
| ENST00000473961.5:c.268-1044G>C | ||
| ENST00000476777.5:c.609G>C | ENSP00000417554.1:p.Leu203Phe | |
| ENST00000477152.5:c.534G>C | ENSP00000419988.1:p.Leu178Phe | |
| ENST00000478531.5:c.609G>C | ENSP00000420412.1:p.Leu203Phe | |
| ENST00000484087.5:c.293-1044G>C | ENSP00000419481.1:n.293-1044G>C | |
| ENST00000487825.5:c.296-1044G>C | ENSP00000418212.1:n.296-1044G>C | |
| ENST00000491747.6:c.612G>C | ENSP00000420705.2:p.Leu204Phe | |
| ENST00000492859.5:c.*548G>C | ENSP00000420253.1:n.*548G>C | |
| ENST00000493795.5:c.471G>C | ENSP00000418775.1:p.Leu157Phe | |
| ENST00000493919.5:c.471G>C | ENSP00000418819.1:p.Leu157Phe | |
| ENST00000494123.5:c.612G>C | ENSP00000419103.1:p.Leu204Phe | |
| ENST00000497488.1:c.-218-1044G>C | ENSP00000418986.1:n.-218-1044G>C | |
| ENST00000586385.5:c.4+29278G>C | ENSP00000465818.1:n.4+29278G>C | |
| ENST00000591534.5:c.-43-21383G>C | ENSP00000467329.1:n.-43-21383G>C | |
| ENST00000591849.5:c.-99+29367G>C | ENSP00000465347.1:n.-99+29367G>C | |
| ENST00000634433.1:c.548-1044G>C | ENSP00000489431.1:n.548-1044G>C | |
| NM_007294.3:c.612G>C , LRG_292t1:c.612G>C | NP_009225.1:p.Leu204Phe | |
| NM_007297.3:c.471G>C | NP_009228.2:p.Leu157Phe | |
| NM_007298.3:c.612G>C | NP_009229.2:p.Leu204Phe | |
| NM_007299.3:c.612G>C | NP_009230.2:p.Leu204Phe | |
| NM_007300.3:c.612G>C | NP_009231.2:p.Leu204Phe | |
| NR_027676.1:n.748G>C | ||
| NM_007294.4:c.612G>C MANE Select | NP_009225.1:p.Leu204Phe | |
| NM_007297.4:c.471G>C | NP_009228.2:p.Leu157Phe | |
| NM_007299.4:c.612G>C | NP_009230.2:p.Leu204Phe | |
| NM_007300.4:c.612G>C | NP_009231.2:p.Leu204Phe | |
| NR_027676.2:n.789G>C |