Linked Data
ClinVar Variation Id:
491071
dbSNP Id:
rs80356916
ExAC:
17:41234567 A / C
gnomAD v2:
17-41234567-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43082550A>C , CM000679.2:g.43082550A>C | GRCh38 |
| NC_000017.10:g.41234567A>C , CM000679.1:g.41234567A>C | GRCh37 |
| NC_000017.9:g.38488093A>C | NCBI36 |
| NG_005905.2:g.135434T>G , LRG_292:g.135434T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461574.2:c.4211T>G | ENSP00000417241.2:p.Leu1404Arg | |
| ENST00000470026.6:c.4211T>G | ENSP00000419274.2:p.Leu1404Arg | |
| ENST00000473961.6:c.4085T>G | ENSP00000420201.2:p.Leu1362Arg | |
| ENST00000476777.6:c.4205T>G | ENSP00000417554.2:p.Leu1402Arg | |
| ENST00000477152.6:c.4133T>G | ENSP00000419988.2:p.Leu1378Arg | |
| ENST00000478531.6:c.899T>G | ENSP00000420412.2:p.Leu300Arg | |
| ENST00000489037.2:c.4133T>G | ENSP00000420781.2:p.Leu1378Arg | |
| ENST00000493919.6:c.761T>G | ENSP00000418819.2:p.Leu254Arg | |
| ENST00000494123.6:c.4211T>G | ENSP00000419103.2:p.Leu1404Arg | |
| ENST00000497488.2:c.3323T>G | ENSP00000418986.2:p.Leu1108Arg | |
| ENST00000618469.2:c.4211T>G | ENSP00000478114.2:p.Leu1404Arg | |
| ENST00000634433.2:c.4088T>G | ENSP00000489431.2:p.Leu1363Arg | |
| ENST00000644379.2:c.4211T>G | ENSP00000496570.2:p.Leu1404Arg | |
| ENST00000644555.2:c.761T>G | ENSP00000494614.2:p.Leu254Arg | |
| ENST00000652672.2:c.4070T>G | ENSP00000498906.2:p.Leu1357Arg | |
| ENST00000484087.6:c.776T>G | ENSP00000419481.2:p.Leu259Arg | |
| ENST00000700182.1:c.821T>G | ENSP00000514849.1:p.Leu274Arg | |
| ENST00000357654.9:c.4211T>G MANE Select | ENSP00000350283.3:p.Leu1404Arg | |
| ENST00000471181.7:c.4211T>G | ENSP00000418960.2:p.Leu1404Arg | |
| ENST00000644379.1:c.532T>G | ||
| ENST00000352993.7:c.785T>G | ENSP00000312236.5:p.Leu262Arg | |
| ENST00000357654.7:c.4211T>G | ENSP00000350283.3:p.Leu1404Arg | |
| ENST00000461221.5:c.*3994T>G | ENSP00000418548.1:n.*3994T>G | |
| ENST00000461574.1:c.505T>G | ||
| ENST00000468300.5:c.902T>G | ENSP00000417148.1:p.Leu301Arg | |
| ENST00000471181.6:c.4211T>G | ENSP00000418960.2:p.Leu1404Arg | |
| ENST00000478531.5:c.899T>G | ENSP00000420412.1:p.Leu300Arg | |
| ENST00000484087.5:c.524T>G | ENSP00000419481.1:p.Leu175Arg | |
| ENST00000487825.5:c.527T>G | ENSP00000418212.1:p.Leu176Arg | |
| ENST00000491747.6:c.902T>G | ENSP00000420705.2:p.Leu301Arg | |
| ENST00000493795.5:c.4070T>G | ENSP00000418775.1:p.Leu1357Arg | |
| ENST00000493919.5:c.761T>G | ENSP00000418819.1:p.Leu254Arg | |
| ENST00000586385.5:c.5-18599T>G | ENSP00000465818.1:n.5-18599T>G | |
| ENST00000591534.5:c.-43-8029T>G | ENSP00000467329.1:n.-43-8029T>G | |
| ENST00000591849.5:c.-98-32360T>G | ENSP00000465347.1:n.-98-32360T>G | |
| ENST00000621897.1:n.105T>G | ||
| NM_007294.3:c.4211T>G , LRG_292t1:c.4211T>G | NP_009225.1:p.Leu1404Arg | |
| NM_007297.3:c.4070T>G | NP_009228.2:p.Leu1357Arg | |
| NM_007298.3:c.902T>G | NP_009229.2:p.Leu301Arg | |
| NM_007299.3:c.902T>G | NP_009230.2:p.Leu301Arg | |
| NM_007300.3:c.4211T>G | NP_009231.2:p.Leu1404Arg | |
| NR_027676.1:n.4347T>G | ||
| NM_007294.4:c.4211T>G MANE Select | NP_009225.1:p.Leu1404Arg | |
| NM_007297.4:c.4070T>G | NP_009228.2:p.Leu1357Arg | |
| NM_007299.4:c.902T>G | NP_009230.2:p.Leu301Arg | |
| NM_007300.4:c.4211T>G | NP_009231.2:p.Leu1404Arg | |
| NR_027676.2:n.4388T>G |