Linked Data
ClinVar Variation Id:
3107137
ClinVar RCV Id:
RCV004404491
dbSNP Id:
rs754589251
ExAC:
5:118811544 A / G
gnomAD v2:
5-118811544-A-G
gnomAD v4:
5-119475849-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.119475849A>G , CM000667.2:g.119475849A>G | GRCh38 |
| NC_000005.9:g.118811544A>G , CM000667.1:g.118811544A>G | GRCh37 |
| NC_000005.8:g.118839443A>G | NCBI36 |
| NG_008182.1:g.28397A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000509514.6:c.328A>G | ENSP00000426272.2:p.Arg110Gly | |
| ENST00000518349.6:c.112+19481A>G | ENSP00000507185.1:n.112+19481A>G | |
| ENST00000682445.1:c.*209A>G | ENSP00000508061.1:n.*209A>G | |
| ENST00000682531.1:n.429A>G | ||
| ENST00000682626.1:c.377+122A>G | ENSP00000507857.1:n.377+122A>G | |
| ENST00000682996.1:c.328A>G | ENSP00000507792.1:p.Arg110Gly | |
| ENST00000683265.1:n.421A>G | ||
| ENST00000683371.1:c.*458A>G | ENSP00000508376.1:n.*458A>G | |
| ENST00000683390.1:n.472A>G | ||
| ENST00000683936.1:c.*213A>G | ENSP00000507721.1:n.*213A>G | |
| ENST00000683974.1:n.410A>G | ||
| ENST00000684160.1:c.403A>G | ENSP00000507821.1:p.Arg135Gly | |
| ENST00000684214.1:c.328A>G | ENSP00000508071.1:p.Arg110Gly | |
| ENST00000414835.7:c.403A>G | ENSP00000411960.3:p.Arg135Gly | |
| ENST00000510025.7:c.328A>G MANE Select | ENSP00000424940.3:p.Arg110Gly | |
| ENST00000643250.1:c.*209A>G | ENSP00000494737.1:n.*209A>G | |
| ENST00000644146.1:c.328A>G | ENSP00000494808.1:p.Arg110Gly | |
| ENST00000645832.1:c.*213A>G | ENSP00000494316.1:n.*213A>G | |
| ENST00000646058.1:c.328A>G | ENSP00000493579.1:p.Arg110Gly | |
| ENST00000646355.1:c.*334A>G | ENSP00000493801.1:n.*334A>G | |
| ENST00000646554.1:c.*209A>G | ENSP00000494542.1:n.*209A>G | |
| ENST00000646590.1:c.328A>G | ENSP00000494892.1:p.Arg110Gly | |
| ENST00000647335.1:c.*295A>G | ENSP00000495180.1:n.*295A>G | |
| ENST00000647342.1:c.*209A>G | ENSP00000494992.1:n.*209A>G | |
| ENST00000256216.10:c.328A>G | ENSP00000256216.6:p.Arg110Gly | |
| ENST00000414835.6:c.-84A>G | ENSP00000411960.2:n.-84A>G | |
| ENST00000442060.7:c.328A>G | ENSP00000390208.3:p.Arg110Gly | |
| ENST00000503168.5:n.317A>G | ||
| ENST00000504811.5:c.403A>G | ENSP00000420914.1:p.Arg135Gly | |
| ENST00000507695.1:n.300A>G | ||
| ENST00000510025.5:c.256A>G | ENSP00000424940.1:p.Arg86Gly | |
| ENST00000511186.5:n.459A>G | ||
| ENST00000512841.5:n.376A>G | ||
| ENST00000515235.6:n.388A>G | ||
| ENST00000515320.5:c.274A>G | ENSP00000424613.1:p.Arg92Gly | |
| NM_000414.3:c.328A>G | NP_000405.1:p.Arg110Gly | |
| NM_001199291.2:c.403A>G | NP_001186220.1:p.Arg135Gly | |
| NM_001199292.1:c.274A>G | NP_001186221.1:p.Arg92Gly | |
| NM_001292027.1:c.256A>G | NP_001278956.1:p.Arg86Gly | |
| NM_001292028.1:c.-84A>G | NP_001278957.1:n.-84A>G | |
| NM_000414.4:c.328A>G MANE Select | NP_000405.1:p.Arg110Gly | |
| NM_001199291.3:c.403A>G | NP_001186220.1:p.Arg135Gly | |
| NM_001199292.2:c.274A>G | NP_001186221.1:p.Arg92Gly | |
| NM_001292027.2:c.256A>G | NP_001278956.1:p.Arg86Gly | |
| NM_001292028.2:c.-84A>G | NP_001278957.1:n.-84A>G | |
| NM_001374497.1:c.328A>G | NP_001361426.1:p.Arg110Gly | |
| NM_001374498.1:c.328A>G | NP_001361427.1:p.Arg110Gly | |
| NM_001374499.1:c.22+122A>G | NP_001361428.1:n.22+122A>G | |
| NM_001374500.1:c.-211A>G | NP_001361429.1:n.-211A>G | |
| NM_001374501.1:c.-84A>G | NP_001361430.1:n.-84A>G | |
| NM_001374502.1:c.-84A>G | NP_001361431.1:n.-84A>G | |
| NM_001374503.1:c.-84A>G | NP_001361432.1:n.-84A>G | |
| NR_164653.1:n.407A>G | ||
| NR_164654.1:n.595A>G |