Linked Data
ClinVar Variation Id:
419732
dbSNP Id:
rs80357323
ExAC:
17:41197756 A / G
gnomAD v2:
17-41197756-A-G
gnomAD v4:
17-43045739-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43045739A>G , CM000679.2:g.43045739A>G | GRCh38 |
| NC_000017.10:g.41197756A>G , CM000679.1:g.41197756A>G | GRCh37 |
| NC_000017.9:g.38451282A>G | NCBI36 |
| NG_005905.2:g.172245T>C , LRG_292:g.172245T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461574.2:c.5528T>C | ENSP00000417241.2:p.Leu1843Pro | |
| ENST00000470026.6:c.5531T>C | ENSP00000419274.2:p.Leu1844Pro | |
| ENST00000473961.6:c.5405T>C | ENSP00000420201.2:p.Leu1802Pro | |
| ENST00000476777.6:c.5525T>C | ENSP00000417554.2:p.Leu1842Pro | |
| ENST00000477152.6:c.5453T>C | ENSP00000419988.2:p.Leu1818Pro | |
| ENST00000478531.6:c.2219T>C | ENSP00000420412.2:p.Leu740Pro | |
| ENST00000489037.2:c.5453T>C | ENSP00000420781.2:p.Leu1818Pro | |
| ENST00000493919.6:c.2081T>C | ENSP00000418819.2:p.Leu694Pro | |
| ENST00000494123.6:c.5531T>C | ENSP00000419103.2:p.Leu1844Pro | |
| ENST00000497488.2:c.4643T>C | ENSP00000418986.2:p.Leu1548Pro | |
| ENST00000618469.2:c.5531T>C | ENSP00000478114.2:p.Leu1844Pro | |
| ENST00000634433.2:c.5408T>C | ENSP00000489431.2:p.Leu1803Pro | |
| ENST00000644379.2:c.5597T>C | ENSP00000496570.2:p.Leu1866Pro | |
| ENST00000644555.2:c.2081T>C | ENSP00000494614.2:p.Leu694Pro | |
| ENST00000652672.2:c.5390T>C | ENSP00000498906.2:p.Leu1797Pro | |
| ENST00000484087.6:c.2093T>C | ENSP00000419481.2:p.Leu698Pro | |
| ENST00000700081.1:n.1414T>C | ||
| ENST00000700082.1:n.895T>C | ||
| ENST00000357654.9:c.5531T>C MANE Select | ENSP00000350283.3:p.Leu1844Pro | |
| ENST00000471181.7:c.5594T>C | ENSP00000418960.2:p.Leu1865Pro | |
| ENST00000644379.1:c.1918T>C | ||
| ENST00000352993.7:c.2105T>C | ENSP00000312236.5:p.Leu702Pro | |
| ENST00000357654.7:c.5531T>C | ENSP00000350283.3:p.Leu1844Pro | |
| ENST00000461221.5:c.*5314T>C | ENSP00000418548.1:n.*5314T>C | |
| ENST00000468300.5:c.*45T>C | ENSP00000417148.1:n.*45T>C | |
| ENST00000471181.6:c.5594T>C | ENSP00000418960.2:p.Leu1865Pro | |
| ENST00000491747.6:c.2219T>C | ENSP00000420705.2:p.Leu740Pro | |
| ENST00000493795.5:c.5390T>C | ENSP00000418775.1:p.Leu1797Pro | |
| ENST00000586385.5:c.461T>C | ENSP00000465818.1:p.Leu154Pro | |
| ENST00000591534.5:c.1004T>C | ENSP00000467329.1:p.Leu335Pro | |
| ENST00000591849.5:c.230T>C | ENSP00000465347.1:p.Leu77Pro | |
| NM_007294.3:c.5531T>C , LRG_292t1:c.5531T>C | NP_009225.1:p.Leu1844Pro | |
| NM_007297.3:c.5390T>C | NP_009228.2:p.Leu1797Pro | |
| NM_007298.3:c.2219T>C | NP_009229.2:p.Leu740Pro | |
| NM_007299.3:c.*45T>C | NP_009230.2:n.*45T>C | |
| NM_007300.3:c.5594T>C | NP_009231.2:p.Leu1865Pro | |
| NR_027676.1:n.5667T>C | ||
| NM_007294.4:c.5531T>C MANE Select | NP_009225.1:p.Leu1844Pro | |
| NM_007297.4:c.5390T>C | NP_009228.2:p.Leu1797Pro | |
| NM_007299.4:c.*45T>C | NP_009230.2:n.*45T>C | |
| NM_007300.4:c.5594T>C | NP_009231.2:p.Leu1865Pro | |
| NR_027676.2:n.5708T>C |