Linked Data
gnomAD v3:
5-119478855-T-G
gnomAD v4:
5-119478855-T-G
MyVariant Identifiers:
chr5:g.118814550T>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.119478855T>G , CM000667.2:g.119478855T>G | GRCh38 |
| NC_000005.9:g.118814550T>G , CM000667.1:g.118814550T>G | GRCh37 |
| NC_000005.8:g.118842449T>G | NCBI36 |
| NG_008182.1:g.31403T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000509514.6:c.456T>G | ENSP00000426272.2:p.Ala152= | |
| ENST00000518349.6:c.113-17688T>G | ENSP00000507185.1:n.113-17688T>G | |
| ENST00000682445.1:c.*337T>G | ENSP00000508061.1:n.*337T>G | |
| ENST00000682531.1:n.557T>G | ||
| ENST00000682626.1:c.484T>G | ENSP00000507857.1:p.Phe162Val | |
| ENST00000682996.1:c.456T>G | ENSP00000507792.1:p.Ala152= | |
| ENST00000683265.1:n.549T>G | ||
| ENST00000683371.1:c.*586T>G | ENSP00000508376.1:n.*586T>G | |
| ENST00000683390.1:n.2146T>G | ||
| ENST00000683549.1:n.377T>G | ||
| ENST00000683936.1:c.*341T>G | ENSP00000507721.1:n.*341T>G | |
| ENST00000683974.1:n.538T>G | ||
| ENST00000683996.1:c.45T>G | ENSP00000507060.1:p.Ala15= | |
| ENST00000684131.1:n.295T>G | ||
| ENST00000684160.1:c.*146T>G | ENSP00000507821.1:n.*146T>G | |
| ENST00000684214.1:c.456T>G | ENSP00000508071.1:p.Ala152= | |
| ENST00000414835.7:c.531T>G | ENSP00000411960.3:p.Ala177= | |
| ENST00000510025.7:c.456T>G MANE Select | ENSP00000424940.3:p.Ala152= | |
| ENST00000643250.1:c.*328T>G | ENSP00000494737.1:n.*328T>G | |
| ENST00000644146.1:c.*34T>G | ENSP00000494808.1:n.*34T>G | |
| ENST00000645099.1:c.15T>G | ENSP00000496091.1:p.Ala5= | |
| ENST00000645702.1:c.45T>G | ENSP00000496432.1:p.Ala15= | |
| ENST00000645832.1:c.*341T>G | ENSP00000494316.1:n.*341T>G | |
| ENST00000646058.1:c.456T>G | ENSP00000493579.1:p.Ala152= | |
| ENST00000646355.1:c.*462T>G | ENSP00000493801.1:n.*462T>G | |
| ENST00000646554.1:c.*434T>G | ENSP00000494542.1:n.*434T>G | |
| ENST00000646590.1:c.447T>G | ENSP00000494892.1:p.Ala149= | |
| ENST00000647335.1:c.*423T>G | ENSP00000495180.1:n.*423T>G | |
| ENST00000647342.1:c.*387T>G | ENSP00000494992.1:n.*387T>G | |
| ENST00000256216.10:c.456T>G | ENSP00000256216.6:p.Ala152= | |
| ENST00000414835.6:c.36T>G | ENSP00000411960.2:p.Ala12= | |
| ENST00000442060.7:c.456T>G | ENSP00000390208.3:p.Ala152= | |
| ENST00000503168.5:n.445T>G | ||
| ENST00000504811.5:c.531T>G | ENSP00000420914.1:p.Ala177= | |
| ENST00000505181.5:n.159T>G | ||
| ENST00000508788.5:n.358T>G | ||
| ENST00000509514.5:c.-429T>G | ENSP00000426272.1:n.-429T>G | |
| ENST00000510025.5:c.384T>G | ENSP00000424940.1:p.Ala128= | |
| ENST00000512644.1:n.24T>G | ||
| ENST00000512841.5:n.504T>G | ||
| ENST00000513628.5:c.45T>G | ENSP00000425993.1:p.Ala15= | |
| ENST00000515235.6:n.516T>G | ||
| ENST00000515320.5:c.402T>G | ENSP00000424613.1:p.Ala134= | |
| NM_000414.3:c.456T>G | NP_000405.1:p.Ala152= | |
| NM_001199291.2:c.531T>G | NP_001186220.1:p.Ala177= | |
| NM_001199292.1:c.402T>G | NP_001186221.1:p.Ala134= | |
| NM_001292027.1:c.384T>G | NP_001278956.1:p.Ala128= | |
| NM_001292028.1:c.36T>G | NP_001278957.1:p.Ala12= | |
| NM_000414.4:c.456T>G MANE Select | NP_000405.1:p.Ala152= | |
| NM_001199291.3:c.531T>G | NP_001186220.1:p.Ala177= | |
| NM_001199292.2:c.402T>G | NP_001186221.1:p.Ala134= | |
| NM_001292027.2:c.384T>G | NP_001278956.1:p.Ala128= | |
| NM_001292028.2:c.36T>G | NP_001278957.1:p.Ala12= | |
| NM_001374497.1:c.447T>G | NP_001361426.1:p.Ala149= | |
| NM_001374498.1:c.456T>G | NP_001361427.1:p.Ala152= | |
| NM_001374499.1:c.129T>G | NP_001361428.1:p.Ala43= | |
| NM_001374500.1:c.15T>G | NP_001361429.1:p.Ala5= | |
| NM_001374501.1:c.45T>G | NP_001361430.1:p.Ala15= | |
| NM_001374502.1:c.45T>G | NP_001361431.1:p.Ala15= | |
| NM_001374503.1:c.45T>G | NP_001361432.1:p.Ala15= | |
| NR_164653.1:n.535T>G | ||
| NR_164654.1:n.723T>G |