Linked Data
ClinVar Variation Id:
1713648
ClinVar RCV Id:
RCV002304279
dbSNP Id:
rs1258550930
gnomAD v4:
5-119478890-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.119478890A>G , CM000667.2:g.119478890A>G | GRCh38 |
| NC_000005.9:g.118814585A>G , CM000667.1:g.118814585A>G | GRCh37 |
| NC_000005.8:g.118842484A>G | NCBI36 |
| NG_008182.1:g.31438A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000509514.6:c.491A>G | ENSP00000426272.2:p.Tyr164Cys | |
| ENST00000518349.6:c.113-17653A>G | ENSP00000507185.1:n.113-17653A>G | |
| ENST00000682445.1:c.*372A>G | ENSP00000508061.1:n.*372A>G | |
| ENST00000682531.1:n.592A>G | ||
| ENST00000682626.1:c.519A>G | ENSP00000507857.1:p.Leu173= | |
| ENST00000682996.1:c.491A>G | ENSP00000507792.1:p.Tyr164Cys | |
| ENST00000683265.1:n.584A>G | ||
| ENST00000683371.1:c.*621A>G | ENSP00000508376.1:n.*621A>G | |
| ENST00000683390.1:n.2181A>G | ||
| ENST00000683549.1:n.412A>G | ||
| ENST00000683936.1:c.*376A>G | ENSP00000507721.1:n.*376A>G | |
| ENST00000683974.1:n.573A>G | ||
| ENST00000683996.1:c.80A>G | ENSP00000507060.1:p.Tyr27Cys | |
| ENST00000684131.1:n.330A>G | ||
| ENST00000684160.1:c.*181A>G | ENSP00000507821.1:n.*181A>G | |
| ENST00000684214.1:c.491A>G | ENSP00000508071.1:p.Tyr164Cys | |
| ENST00000414835.7:c.566A>G | ENSP00000411960.3:p.Tyr189Cys | |
| ENST00000510025.7:c.491A>G MANE Select | ENSP00000424940.3:p.Tyr164Cys | |
| ENST00000643250.1:c.*363A>G | ENSP00000494737.1:n.*363A>G | |
| ENST00000644146.1:c.*69A>G | ENSP00000494808.1:n.*69A>G | |
| ENST00000645099.1:c.50A>G | ENSP00000496091.1:p.Tyr17Cys | |
| ENST00000645702.1:c.80A>G | ENSP00000496432.1:p.Tyr27Cys | |
| ENST00000645832.1:c.*376A>G | ENSP00000494316.1:n.*376A>G | |
| ENST00000646058.1:c.491A>G | ENSP00000493579.1:p.Tyr164Cys | |
| ENST00000646355.1:c.*497A>G | ENSP00000493801.1:n.*497A>G | |
| ENST00000646554.1:c.*469A>G | ENSP00000494542.1:n.*469A>G | |
| ENST00000646590.1:c.482A>G | ENSP00000494892.1:p.Tyr161Cys | |
| ENST00000647335.1:c.*458A>G | ENSP00000495180.1:n.*458A>G | |
| ENST00000647342.1:c.*422A>G | ENSP00000494992.1:n.*422A>G | |
| ENST00000256216.10:c.491A>G | ENSP00000256216.6:p.Tyr164Cys | |
| ENST00000414835.6:c.71A>G | ENSP00000411960.2:p.Tyr24Cys | |
| ENST00000442060.7:c.491A>G | ENSP00000390208.3:p.Tyr164Cys | |
| ENST00000503168.5:n.480A>G | ||
| ENST00000504811.5:c.566A>G | ENSP00000420914.1:p.Tyr189Cys | |
| ENST00000505181.5:n.194A>G | ||
| ENST00000508788.5:n.393A>G | ||
| ENST00000509514.5:c.-394A>G | ENSP00000426272.1:n.-394A>G | |
| ENST00000510025.5:c.419A>G | ENSP00000424940.1:p.Tyr140Cys | |
| ENST00000512644.1:n.59A>G | ||
| ENST00000512841.5:n.539A>G | ||
| ENST00000513628.5:c.80A>G | ENSP00000425993.1:p.Tyr27Cys | |
| ENST00000515235.6:n.551A>G | ||
| ENST00000515320.5:c.437A>G | ENSP00000424613.1:p.Tyr146Cys | |
| NM_000414.3:c.491A>G | NP_000405.1:p.Tyr164Cys | |
| NM_001199291.2:c.566A>G | NP_001186220.1:p.Tyr189Cys | |
| NM_001199292.1:c.437A>G | NP_001186221.1:p.Tyr146Cys | |
| NM_001292027.1:c.419A>G | NP_001278956.1:p.Tyr140Cys | |
| NM_001292028.1:c.71A>G | NP_001278957.1:p.Tyr24Cys | |
| NM_000414.4:c.491A>G MANE Select | NP_000405.1:p.Tyr164Cys | |
| NM_001199291.3:c.566A>G | NP_001186220.1:p.Tyr189Cys | |
| NM_001199292.2:c.437A>G | NP_001186221.1:p.Tyr146Cys | |
| NM_001292027.2:c.419A>G | NP_001278956.1:p.Tyr140Cys | |
| NM_001292028.2:c.71A>G | NP_001278957.1:p.Tyr24Cys | |
| NM_001374497.1:c.482A>G | NP_001361426.1:p.Tyr161Cys | |
| NM_001374498.1:c.491A>G | NP_001361427.1:p.Tyr164Cys | |
| NM_001374499.1:c.164A>G | NP_001361428.1:p.Tyr55Cys | |
| NM_001374500.1:c.50A>G | NP_001361429.1:p.Tyr17Cys | |
| NM_001374501.1:c.80A>G | NP_001361430.1:p.Tyr27Cys | |
| NM_001374502.1:c.80A>G | NP_001361431.1:p.Tyr27Cys | |
| NM_001374503.1:c.80A>G | NP_001361432.1:p.Tyr27Cys | |
| NR_164653.1:n.570A>G | ||
| NR_164654.1:n.758A>G |