Linked Data
ClinVar Variation Id:
3142952
ClinVar RCV Id:
RCV004436337
dbSNP Id:
rs147558146
ExAC:
6:167440064 C / G
gnomAD v2:
6-167440064-C-G
gnomAD v3:
6-167026576-C-G
gnomAD v4:
6-167026576-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.167026576C>G , CM000668.2:g.167026576C>G | GRCh38 |
| NC_000006.11:g.167440064C>G , CM000668.1:g.167440064C>G | GRCh37 |
| NC_000006.10:g.167360054C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000349556.5:c.889C>G | ENSP00000230248.6:p.Leu297Val | |
| ENST00000488525.2:c.*81C>G | ENSP00000516042.1:n.*81C>G | |
| ENST00000609590.2:n.1821C>G | ||
| ENST00000704900.1:c.526C>G | ENSP00000516059.1:p.Leu176Val | |
| ENST00000704901.1:c.*536C>G | ENSP00000516060.1:n.*536C>G | |
| ENST00000704959.1:n.1214C>G | ||
| ENST00000704982.1:n.1659C>G | ||
| ENST00000704985.1:n.2055C>G | ||
| ENST00000704986.1:n.2025+1682C>G | ||
| ENST00000705029.1:n.1780C>G | ||
| ENST00000705059.1:n.1574+1682C>G | ||
| ENST00000705168.1:c.202C>G | ENSP00000516071.1:p.Leu68Val | |
| ENST00000705169.1:c.202C>G | ENSP00000516072.1:p.Leu68Val | |
| ENST00000705170.1:c.202C>G | ENSP00000516073.1:p.Leu68Val | |
| ENST00000705171.1:n.994C>G | ||
| ENST00000705173.1:c.*258C>G | ENSP00000516075.1:n.*258C>G | |
| ENST00000705175.1:c.1075C>G | ENSP00000516077.1:p.Leu359Val | |
| ENST00000705176.1:c.1135C>G | ENSP00000516078.1:p.Leu379Val | |
| ENST00000705177.1:c.*533C>G | ENSP00000516079.1:n.*533C>G | |
| ENST00000705178.1:c.472C>G | ENSP00000516080.1:p.Leu158Val | |
| ENST00000705179.1:c.667C>G | ENSP00000516081.1:p.Leu223Val | |
| ENST00000705180.1:c.607C>G | ENSP00000516082.1:p.Leu203Val | |
| ENST00000705235.1:c.919+1682C>G | ENSP00000516093.1:n.919+1682C>G | |
| ENST00000705236.1:c.859+1682C>G | ENSP00000516094.1:n.859+1682C>G | |
| ENST00000705237.1:c.577+1682C>G | ENSP00000516095.1:n.577+1682C>G | |
| ENST00000705238.1:c.808C>G | ENSP00000516096.1:p.Leu270Val | |
| ENST00000705239.1:c.886C>G | ENSP00000516097.1:p.Leu296Val | |
| ENST00000705240.1:c.*558C>G | ENSP00000516098.1:n.*558C>G | |
| ENST00000705241.1:c.*81C>G | ENSP00000516099.1:n.*81C>G | |
| ENST00000705242.1:c.886C>G | ENSP00000516100.1:p.Leu296Val | |
| ENST00000705249.1:c.889C>G | ENSP00000516101.1:p.Leu297Val | |
| ENST00000705250.1:c.667C>G | ENSP00000516102.1:p.Leu223Val | |
| ENST00000705251.1:c.*536C>G | ENSP00000516103.1:n.*536C>G | |
| ENST00000705252.1:c.*359C>G | ENSP00000516104.1:n.*359C>G | |
| ENST00000705253.1:c.*359C>G | ENSP00000516105.1:n.*359C>G | |
| ENST00000705254.1:c.496C>G | ENSP00000516106.1:p.Leu166Val | |
| ENST00000705255.1:n.1515C>G | ||
| ENST00000705256.1:c.946C>G | ENSP00000516107.1:p.Leu316Val | |
| ENST00000366847.9:c.949C>G MANE Select | ENSP00000355812.3:p.Leu317Val | |
| ENST00000349556.4:c.889C>G | ENSP00000230248.6:p.Leu297Val | |
| ENST00000366847.8:c.949C>G | ENSP00000355812.3:p.Leu317Val | |
| ENST00000488525.1:n.135C>G | ||
| ENST00000622353.4:c.808C>G | ENSP00000479115.1:p.Leu270Val | |
| NM_001278690.1:c.808C>G | NP_001265619.1:p.Leu270Val | |
| NM_007045.3:c.949C>G | NP_008976.1:p.Leu317Val | |
| NM_194429.2:c.889C>G | NP_919410.1:p.Leu297Val | |
| NM_007045.4:c.949C>G MANE Select | NP_008976.1:p.Leu317Val | |
| NM_194429.3:c.889C>G | NP_919410.1:p.Leu297Val | |
| NM_001278690.2:c.808C>G | NP_001265619.1:p.Leu270Val |