Linked Data
ClinVar Variation Id:
91649
dbSNP Id:
rs398122697
ExAC:
17:41201187 A / G
gnomAD v2:
17-41201187-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43049170A>G , CM000679.2:g.43049170A>G | GRCh38 |
| NC_000017.10:g.41201187A>G , CM000679.1:g.41201187A>G | GRCh37 |
| NC_000017.9:g.38454713A>G | NCBI36 |
| NG_005905.2:g.168814T>C , LRG_292:g.168814T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461574.2:c.5354T>C | ENSP00000417241.2:p.Leu1785Pro | |
| ENST00000470026.6:c.5357T>C | ENSP00000419274.2:p.Leu1786Pro | |
| ENST00000473961.6:c.5231T>C | ENSP00000420201.2:p.Leu1744Pro | |
| ENST00000476777.6:c.5351T>C | ENSP00000417554.2:p.Leu1784Pro | |
| ENST00000477152.6:c.5279T>C | ENSP00000419988.2:p.Leu1760Pro | |
| ENST00000478531.6:c.2045T>C | ENSP00000420412.2:p.Leu682Pro | |
| ENST00000489037.2:c.5279T>C | ENSP00000420781.2:p.Leu1760Pro | |
| ENST00000493919.6:c.1907T>C | ENSP00000418819.2:p.Leu636Pro | |
| ENST00000494123.6:c.5357T>C | ENSP00000419103.2:p.Leu1786Pro | |
| ENST00000497488.2:c.4469T>C | ENSP00000418986.2:p.Leu1490Pro | |
| ENST00000618469.2:c.5357T>C | ENSP00000478114.2:p.Leu1786Pro | |
| ENST00000634433.2:c.5234T>C | ENSP00000489431.2:p.Leu1745Pro | |
| ENST00000644379.2:c.5423T>C | ENSP00000496570.2:p.Leu1808Pro | |
| ENST00000644555.2:c.1907T>C | ENSP00000494614.2:p.Leu636Pro | |
| ENST00000652672.2:c.5216T>C | ENSP00000498906.2:p.Leu1739Pro | |
| ENST00000484087.6:c.1919T>C | ENSP00000419481.2:p.Leu640Pro | |
| ENST00000700081.1:n.1240T>C | ||
| ENST00000357654.9:c.5357T>C MANE Select | ENSP00000350283.3:p.Leu1786Pro | |
| ENST00000471181.7:c.5420T>C | ENSP00000418960.2:p.Leu1807Pro | |
| ENST00000644379.1:c.1744T>C | ||
| ENST00000352993.7:c.1931T>C | ENSP00000312236.5:p.Leu644Pro | |
| ENST00000357654.7:c.5357T>C | ENSP00000350283.3:p.Leu1786Pro | |
| ENST00000461221.5:c.*5140T>C | ENSP00000418548.1:n.*5140T>C | |
| ENST00000468300.5:c.2021-1467T>C | ENSP00000417148.1:n.2021-1467T>C | |
| ENST00000471181.6:c.5420T>C | ENSP00000418960.2:p.Leu1807Pro | |
| ENST00000491747.6:c.2045T>C | ENSP00000420705.2:p.Leu682Pro | |
| ENST00000493795.5:c.5216T>C | ENSP00000418775.1:p.Leu1739Pro | |
| ENST00000586385.5:c.287T>C | ENSP00000465818.1:p.Leu96Pro | |
| ENST00000591534.5:c.830T>C | ENSP00000467329.1:p.Leu277Pro | |
| ENST00000591849.5:c.56T>C | ENSP00000465347.1:p.Leu19Pro | |
| NM_007294.3:c.5357T>C , LRG_292t1:c.5357T>C | NP_009225.1:p.Leu1786Pro | |
| NM_007297.3:c.5216T>C | NP_009228.2:p.Leu1739Pro | |
| NM_007298.3:c.2045T>C | NP_009229.2:p.Leu682Pro | |
| NM_007299.3:c.2021-1467T>C | NP_009230.2:n.2021-1467T>C | |
| NM_007300.3:c.5420T>C | NP_009231.2:p.Leu1807Pro | |
| NR_027676.1:n.5493T>C | ||
| NM_007294.4:c.5357T>C MANE Select | NP_009225.1:p.Leu1786Pro | |
| NM_007297.4:c.5216T>C | NP_009228.2:p.Leu1739Pro | |
| NM_007299.4:c.2021-1467T>C | NP_009230.2:n.2021-1467T>C | |
| NM_007300.4:c.5420T>C | NP_009231.2:p.Leu1807Pro | |
| NR_027676.2:n.5534T>C |