Linked Data
ClinVar Variation Id:
287598
dbSNP Id:
rs145728297
ExAC:
5:118877654 C / G
gnomAD v2:
5-118877654-C-G
gnomAD v3:
5-119541959-C-G
gnomAD v4:
5-119541959-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.119541959C>G , CM000667.2:g.119541959C>G | GRCh38 |
| NC_000005.9:g.118877654C>G , CM000667.1:g.118877654C>G | GRCh37 |
| NC_000005.8:g.118905553C>G | NCBI36 |
| NG_008182.1:g.94507C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000509514.6:c.2107C>G | ENSP00000426272.2:p.Leu703Val | |
| ENST00000518349.6:c.1420C>G | ENSP00000507185.1:p.Leu474Val | |
| ENST00000682445.1:c.*2057C>G | ENSP00000508061.1:n.*2057C>G | |
| ENST00000682531.1:n.4068C>G | ||
| ENST00000682626.1:c.*1682C>G | ENSP00000507857.1:n.*1682C>G | |
| ENST00000682996.1:c.2104C>G | ENSP00000507792.1:p.Leu702Val | |
| ENST00000683265.1:n.3962C>G | ||
| ENST00000683335.1:n.3578C>G | ||
| ENST00000683371.1:c.*2306C>G | ENSP00000508376.1:n.*2306C>G | |
| ENST00000683372.1:n.4186C>G | ||
| ENST00000683390.1:n.8884C>G | ||
| ENST00000683476.1:n.1018C>G | ||
| ENST00000683549.1:n.3790C>G | ||
| ENST00000683936.1:c.*3754C>G | ENSP00000507721.1:n.*3754C>G | |
| ENST00000683974.1:n.3905C>G | ||
| ENST00000683996.1:c.*1386C>G | ENSP00000507060.1:n.*1386C>G | |
| ENST00000684131.1:n.3708C>G | ||
| ENST00000684160.1:c.*1866C>G | ENSP00000507821.1:n.*1866C>G | |
| ENST00000684214.1:c.*171C>G | ENSP00000508071.1:n.*171C>G | |
| ENST00000414835.7:c.2251C>G | ENSP00000411960.3:p.Leu751Val | |
| ENST00000510025.7:c.2176C>G MANE Select | ENSP00000424940.3:p.Leu726Val | |
| ENST00000643250.1:c.*2048C>G | ENSP00000494737.1:n.*2048C>G | |
| ENST00000643897.1:c.113+5409C>G | ||
| ENST00000644146.1:c.*3447C>G | ENSP00000494808.1:n.*3447C>G | |
| ENST00000645099.1:c.1735C>G | ENSP00000496091.1:p.Leu579Val | |
| ENST00000645702.1:c.*1579C>G | ENSP00000496432.1:n.*1579C>G | |
| ENST00000645832.1:c.*2061C>G | ENSP00000494316.1:n.*2061C>G | |
| ENST00000646058.1:c.2121+5409C>G | ENSP00000493579.1:n.2121+5409C>G | |
| ENST00000646355.1:c.*2182C>G | ENSP00000493801.1:n.*2182C>G | |
| ENST00000646554.1:c.*2154C>G | ENSP00000494542.1:n.*2154C>G | |
| ENST00000647335.1:c.*2143C>G | ENSP00000495180.1:n.*2143C>G | |
| ENST00000647342.1:c.*2107C>G | ENSP00000494992.1:n.*2107C>G | |
| ENST00000256216.10:c.2176C>G | ENSP00000256216.6:p.Leu726Val | |
| ENST00000414835.6:c.1756C>G | ENSP00000411960.2:p.Leu586Val | |
| ENST00000442060.7:c.*731C>G | ENSP00000390208.3:n.*731C>G | |
| ENST00000503310.1:n.836C>G | ||
| ENST00000504811.5:c.2251C>G | ENSP00000420914.1:p.Leu751Val | |
| ENST00000509514.5:c.1390C>G | ENSP00000426272.1:p.Leu464Val | |
| ENST00000509606.1:n.471C>G | ||
| ENST00000509951.5:n.364C>G | ||
| ENST00000510025.5:c.2104C>G | ENSP00000424940.1:p.Leu702Val | |
| ENST00000513628.5:c.1765C>G | ENSP00000425993.1:p.Leu589Val | |
| ENST00000515235.6:n.3874+5409C>G | ||
| ENST00000515320.5:c.2122C>G | ENSP00000424613.1:p.Leu708Val | |
| ENST00000522415.5:n.843C>G | ||
| NM_000414.3:c.2176C>G | NP_000405.1:p.Leu726Val | |
| NM_001199291.2:c.2251C>G | NP_001186220.1:p.Leu751Val | |
| NM_001199292.1:c.2122C>G | NP_001186221.1:p.Leu708Val | |
| NM_001292027.1:c.2104C>G | NP_001278956.1:p.Leu702Val | |
| NM_001292028.1:c.1756C>G | NP_001278957.1:p.Leu586Val | |
| NM_000414.4:c.2176C>G MANE Select | NP_000405.1:p.Leu726Val | |
| NM_001199291.3:c.2251C>G | NP_001186220.1:p.Leu751Val | |
| NM_001199292.2:c.2122C>G | NP_001186221.1:p.Leu708Val | |
| NM_001292027.2:c.2104C>G | NP_001278956.1:p.Leu702Val | |
| NM_001292028.2:c.1756C>G | NP_001278957.1:p.Leu586Val | |
| NM_001374497.1:c.2167C>G | NP_001361426.1:p.Leu723Val | |
| NM_001374498.1:c.2104C>G | NP_001361427.1:p.Leu702Val | |
| NM_001374499.1:c.1849C>G | NP_001361428.1:p.Leu617Val | |
| NM_001374500.1:c.1735C>G | NP_001361429.1:p.Leu579Val | |
| NM_001374501.1:c.1765C>G | NP_001361430.1:p.Leu589Val | |
| NM_001374502.1:c.1765C>G | NP_001361431.1:p.Leu589Val | |
| NM_001374503.1:c.1765C>G | NP_001361432.1:p.Leu589Val | |
| NR_164653.1:n.2273C>G | ||
| NR_164654.1:n.2541C>G |