Linked Data
ClinVar Variation Id:
54347
dbSNP Id:
rs80357371
ExAC:
17:41245762 G / C
gnomAD v2:
17-41245762-G-C
gnomAD v4:
17-43093745-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43093745G>C , CM000679.2:g.43093745G>C | GRCh38 |
| NC_000017.10:g.41245762G>C , CM000679.1:g.41245762G>C | GRCh37 |
| NC_000017.9:g.38499288G>C | NCBI36 |
| NG_005905.2:g.124239C>G , LRG_292:g.124239C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354071.8:n.1850C>G | ||
| ENST00000461574.2:c.1786C>G | ENSP00000417241.2:p.Leu596Val | |
| ENST00000470026.6:c.1786C>G | ENSP00000419274.2:p.Leu596Val | |
| ENST00000473961.6:c.1660C>G | ENSP00000420201.2:p.Leu554Val | |
| ENST00000476777.6:c.1783C>G | ENSP00000417554.2:p.Leu595Val | |
| ENST00000477152.6:c.1708C>G | ENSP00000419988.2:p.Leu570Val | |
| ENST00000478531.6:c.784+999C>G | ENSP00000420412.2:n.784+999C>G | |
| ENST00000489037.2:c.1708C>G | ENSP00000420781.2:p.Leu570Val | |
| ENST00000493919.6:c.646+999C>G | ENSP00000418819.2:n.646+999C>G | |
| ENST00000494123.6:c.1786C>G | ENSP00000419103.2:p.Leu596Val | |
| ENST00000497488.2:c.898C>G | ENSP00000418986.2:p.Leu300Val | |
| ENST00000618469.2:c.1786C>G | ENSP00000478114.2:p.Leu596Val | |
| ENST00000634433.2:c.1663C>G | ENSP00000489431.2:p.Leu555Val | |
| ENST00000644379.2:c.1786C>G | ENSP00000496570.2:p.Leu596Val | |
| ENST00000644555.2:c.646+999C>G | ENSP00000494614.2:n.646+999C>G | |
| ENST00000652672.2:c.1645C>G | ENSP00000498906.2:p.Leu549Val | |
| ENST00000484087.6:c.664+999C>G | ENSP00000419481.2:n.664+999C>G | |
| ENST00000700182.1:c.706+999C>G | ENSP00000514849.1:n.706+999C>G | |
| ENST00000357654.9:c.1786C>G MANE Select | ENSP00000350283.3:p.Leu596Val | |
| ENST00000471181.7:c.1786C>G | ENSP00000418960.2:p.Leu596Val | |
| ENST00000652672.1:c.1645C>G | ENSP00000498906.1:p.Leu549Val | |
| ENST00000352993.7:c.670+2101C>G | ENSP00000312236.5:n.670+2101C>G | |
| ENST00000354071.7:c.1786C>G | ENSP00000326002.7:p.Leu596Val | |
| ENST00000357654.7:c.1786C>G | ENSP00000350283.3:p.Leu596Val | |
| ENST00000412061.3:c.1137C>G | ||
| ENST00000461221.5:c.*1569C>G | ENSP00000418548.1:n.*1569C>G | |
| ENST00000468300.5:c.787+999C>G | ENSP00000417148.1:n.787+999C>G | |
| ENST00000470026.5:c.1786C>G | ENSP00000419274.1:p.Leu596Val | |
| ENST00000471181.6:c.1786C>G | ENSP00000418960.2:p.Leu596Val | |
| ENST00000477152.5:c.1708C>G | ENSP00000419988.1:p.Leu570Val | |
| ENST00000478531.5:c.784+999C>G | ENSP00000420412.1:n.784+999C>G | |
| ENST00000484087.5:c.409+999C>G | ENSP00000419481.1:n.409+999C>G | |
| ENST00000487825.5:c.412+999C>G | ENSP00000418212.1:n.412+999C>G | |
| ENST00000491747.6:c.787+999C>G | ENSP00000420705.2:n.787+999C>G | |
| ENST00000493795.5:c.1645C>G | ENSP00000418775.1:p.Leu549Val | |
| ENST00000493919.5:c.646+999C>G | ENSP00000418819.1:n.646+999C>G | |
| ENST00000586385.5:c.5-29794C>G | ENSP00000465818.1:n.5-29794C>G | |
| ENST00000591534.5:c.-43-19224C>G | ENSP00000467329.1:n.-43-19224C>G | |
| ENST00000591849.5:c.-99+31526C>G | ENSP00000465347.1:n.-99+31526C>G | |
| ENST00000634433.1:c.1663C>G | ENSP00000489431.1:p.Leu555Val | |
| NM_007294.3:c.1786C>G , LRG_292t1:c.1786C>G | NP_009225.1:p.Leu596Val | |
| NM_007297.3:c.1645C>G | NP_009228.2:p.Leu549Val | |
| NM_007298.3:c.787+999C>G | NP_009229.2:n.787+999C>G | |
| NM_007299.3:c.787+999C>G | NP_009230.2:n.787+999C>G | |
| NM_007300.3:c.1786C>G | NP_009231.2:p.Leu596Val | |
| NR_027676.1:n.1922C>G | ||
| NM_007294.4:c.1786C>G MANE Select | NP_009225.1:p.Leu596Val | |
| NM_007297.4:c.1645C>G | NP_009228.2:p.Leu549Val | |
| NM_007299.4:c.787+999C>G | NP_009230.2:n.787+999C>G | |
| NM_007300.4:c.1786C>G | NP_009231.2:p.Leu596Val | |
| NR_027676.2:n.1963C>G |