Linked Data
ClinVar Variation Id:
350463
dbSNP Id:
rs543710228
ExAC:
5:118829584 G / A
gnomAD v2:
5-118829584-G-A
gnomAD v3:
5-119493889-G-A
gnomAD v4:
5-119493889-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.119493889G>A , CM000667.2:g.119493889G>A | GRCh38 |
| NC_000005.9:g.118829584G>A , CM000667.1:g.118829584G>A | GRCh37 |
| NC_000005.8:g.118857483G>A | NCBI36 |
| NG_008182.1:g.46437G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000509514.6:c.811G>A | ENSP00000426272.2:p.Ala271Thr | |
| ENST00000518349.6:c.113-2654G>A | ENSP00000507185.1:n.113-2654G>A | |
| ENST00000682445.1:c.*692G>A | ENSP00000508061.1:n.*692G>A | |
| ENST00000682531.1:n.2605G>A | ||
| ENST00000682626.1:c.*317G>A | ENSP00000507857.1:n.*317G>A | |
| ENST00000682996.1:c.811G>A | ENSP00000507792.1:p.Ala271Thr | |
| ENST00000683265.1:n.2597G>A | ||
| ENST00000683371.1:c.*941G>A | ENSP00000508376.1:n.*941G>A | |
| ENST00000683372.1:n.2821G>A | ||
| ENST00000683390.1:n.2501G>A | ||
| ENST00000683549.1:n.2425G>A | ||
| ENST00000683936.1:c.*2389G>A | ENSP00000507721.1:n.*2389G>A | |
| ENST00000683974.1:n.2586G>A | ||
| ENST00000683996.1:c.400G>A | ENSP00000507060.1:p.Ala134Thr | |
| ENST00000684131.1:n.2343G>A | ||
| ENST00000684160.1:c.*501G>A | ENSP00000507821.1:n.*501G>A | |
| ENST00000684214.1:c.811G>A | ENSP00000508071.1:p.Ala271Thr | |
| ENST00000414835.7:c.886G>A | ENSP00000411960.3:p.Ala296Thr | |
| ENST00000510025.7:c.811G>A MANE Select | ENSP00000424940.3:p.Ala271Thr | |
| ENST00000643250.1:c.*683G>A | ENSP00000494737.1:n.*683G>A | |
| ENST00000644146.1:c.*2082G>A | ENSP00000494808.1:n.*2082G>A | |
| ENST00000645099.1:c.370G>A | ENSP00000496091.1:p.Ala124Thr | |
| ENST00000645702.1:c.*214G>A | ENSP00000496432.1:n.*214G>A | |
| ENST00000645832.1:c.*696G>A | ENSP00000494316.1:n.*696G>A | |
| ENST00000646058.1:c.811G>A | ENSP00000493579.1:p.Ala271Thr | |
| ENST00000646355.1:c.*817G>A | ENSP00000493801.1:n.*817G>A | |
| ENST00000646554.1:c.*789G>A | ENSP00000494542.1:n.*789G>A | |
| ENST00000647335.1:c.*778G>A | ENSP00000495180.1:n.*778G>A | |
| ENST00000647342.1:c.*742G>A | ENSP00000494992.1:n.*742G>A | |
| ENST00000256216.10:c.811G>A | ENSP00000256216.6:p.Ala271Thr | |
| ENST00000414835.6:c.391G>A | ENSP00000411960.2:p.Ala131Thr | |
| ENST00000442060.7:c.811G>A | ENSP00000390208.3:p.Ala271Thr | |
| ENST00000504811.5:c.886G>A | ENSP00000420914.1:p.Ala296Thr | |
| ENST00000509514.5:c.-74G>A | ENSP00000426272.1:n.-74G>A | |
| ENST00000510025.5:c.739G>A | ENSP00000424940.1:p.Ala247Thr | |
| ENST00000513628.5:c.400G>A | ENSP00000425993.1:p.Ala134Thr | |
| ENST00000515235.6:n.2564G>A | ||
| ENST00000515320.5:c.757G>A | ENSP00000424613.1:p.Ala253Thr | |
| ENST00000520216.5:n.72G>A | ||
| NM_000414.3:c.811G>A | NP_000405.1:p.Ala271Thr | |
| NM_001199291.2:c.886G>A | NP_001186220.1:p.Ala296Thr | |
| NM_001199292.1:c.757G>A | NP_001186221.1:p.Ala253Thr | |
| NM_001292027.1:c.739G>A | NP_001278956.1:p.Ala247Thr | |
| NM_001292028.1:c.391G>A | NP_001278957.1:p.Ala131Thr | |
| NM_000414.4:c.811G>A MANE Select | NP_000405.1:p.Ala271Thr | |
| NM_001199291.3:c.886G>A | NP_001186220.1:p.Ala296Thr | |
| NM_001199292.2:c.757G>A | NP_001186221.1:p.Ala253Thr | |
| NM_001292027.2:c.739G>A | NP_001278956.1:p.Ala247Thr | |
| NM_001292028.2:c.391G>A | NP_001278957.1:p.Ala131Thr | |
| NM_001374497.1:c.802G>A | NP_001361426.1:p.Ala268Thr | |
| NM_001374498.1:c.811G>A | NP_001361427.1:p.Ala271Thr | |
| NM_001374499.1:c.484G>A | NP_001361428.1:p.Ala162Thr | |
| NM_001374500.1:c.370G>A | NP_001361429.1:p.Ala124Thr | |
| NM_001374501.1:c.400G>A | NP_001361430.1:p.Ala134Thr | |
| NM_001374502.1:c.400G>A | NP_001361431.1:p.Ala134Thr | |
| NM_001374503.1:c.400G>A | NP_001361432.1:p.Ala134Thr | |
| NR_164653.1:n.908G>A | ||
| NR_164654.1:n.1078G>A |