Linked Data
ClinVar Variation Id:
194706
dbSNP Id:
rs28943591
ExAC:
5:118850709 G / A
gnomAD v2:
5-118850709-G-A
gnomAD v3:
5-119515014-G-A
gnomAD v4:
5-119515014-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.119515014G>A , CM000667.2:g.119515014G>A | GRCh38 |
| NC_000005.9:g.118850709G>A , CM000667.1:g.118850709G>A | GRCh37 |
| NC_000005.8:g.118878608G>A | NCBI36 |
| NG_008182.1:g.67562G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000509514.6:c.1402G>A | ENSP00000426272.2:p.Ala468Thr | |
| ENST00000518349.6:c.715G>A | ENSP00000507185.1:p.Ala239Thr | |
| ENST00000520244.6:n.3209G>A | ||
| ENST00000682445.1:c.*1352G>A | ENSP00000508061.1:n.*1352G>A | |
| ENST00000682531.1:n.3363G>A | ||
| ENST00000682626.1:c.*977G>A | ENSP00000507857.1:n.*977G>A | |
| ENST00000682996.1:c.1399G>A | ENSP00000507792.1:p.Ala467Thr | |
| ENST00000683265.1:n.3257G>A | ||
| ENST00000683335.1:n.2873G>A | ||
| ENST00000683371.1:c.*1601G>A | ENSP00000508376.1:n.*1601G>A | |
| ENST00000683372.1:n.3481G>A | ||
| ENST00000683390.1:n.3161G>A | ||
| ENST00000683549.1:n.3085G>A | ||
| ENST00000683936.1:c.*3049G>A | ENSP00000507721.1:n.*3049G>A | |
| ENST00000683974.1:n.3213-13G>A | ||
| ENST00000683996.1:c.*681G>A | ENSP00000507060.1:n.*681G>A | |
| ENST00000684131.1:n.3003G>A | ||
| ENST00000684160.1:c.*1161G>A | ENSP00000507821.1:n.*1161G>A | |
| ENST00000684214.1:c.1471G>A | ENSP00000508071.1:p.Ala491Thr | |
| ENST00000414835.7:c.1546G>A | ENSP00000411960.3:p.Ala516Thr | |
| ENST00000510025.7:c.1471G>A MANE Select | ENSP00000424940.3:p.Ala491Thr | |
| ENST00000643250.1:c.*1343G>A | ENSP00000494737.1:n.*1343G>A | |
| ENST00000644146.1:c.*2742G>A | ENSP00000494808.1:n.*2742G>A | |
| ENST00000645099.1:c.1030G>A | ENSP00000496091.1:p.Ala344Thr | |
| ENST00000645702.1:c.*874G>A | ENSP00000496432.1:n.*874G>A | |
| ENST00000645832.1:c.*1356G>A | ENSP00000494316.1:n.*1356G>A | |
| ENST00000646058.1:c.1471G>A | ENSP00000493579.1:p.Ala491Thr | |
| ENST00000646355.1:c.*1477G>A | ENSP00000493801.1:n.*1477G>A | |
| ENST00000646554.1:c.*1449G>A | ENSP00000494542.1:n.*1449G>A | |
| ENST00000647335.1:c.*1438G>A | ENSP00000495180.1:n.*1438G>A | |
| ENST00000647342.1:c.*1402G>A | ENSP00000494992.1:n.*1402G>A | |
| ENST00000256216.10:c.1471G>A | ENSP00000256216.6:p.Ala491Thr | |
| ENST00000414835.6:c.1051G>A | ENSP00000411960.2:p.Ala351Thr | |
| ENST00000442060.7:c.*33G>A | ENSP00000390208.3:n.*33G>A | |
| ENST00000504811.5:c.1546G>A | ENSP00000420914.1:p.Ala516Thr | |
| ENST00000509514.5:c.685G>A | ENSP00000426272.1:p.Ala229Thr | |
| ENST00000510025.5:c.1399G>A | ENSP00000424940.1:p.Ala467Thr | |
| ENST00000513628.5:c.1060G>A | ENSP00000425993.1:p.Ala354Thr | |
| ENST00000515235.6:n.3224G>A | ||
| ENST00000515320.5:c.1417G>A | ENSP00000424613.1:p.Ala473Thr | |
| ENST00000518349.5:n.605G>A | ||
| ENST00000520244.5:n.254G>A | ||
| ENST00000522415.5:n.138G>A | ||
| NM_000414.3:c.1471G>A | NP_000405.1:p.Ala491Thr | |
| NM_001199291.2:c.1546G>A | NP_001186220.1:p.Ala516Thr | |
| NM_001199292.1:c.1417G>A | NP_001186221.1:p.Ala473Thr | |
| NM_001292027.1:c.1399G>A | NP_001278956.1:p.Ala467Thr | |
| NM_001292028.1:c.1051G>A | NP_001278957.1:p.Ala351Thr | |
| NM_000414.4:c.1471G>A MANE Select | NP_000405.1:p.Ala491Thr | |
| NM_001199291.3:c.1546G>A | NP_001186220.1:p.Ala516Thr | |
| NM_001199292.2:c.1417G>A | NP_001186221.1:p.Ala473Thr | |
| NM_001292027.2:c.1399G>A | NP_001278956.1:p.Ala467Thr | |
| NM_001292028.2:c.1051G>A | NP_001278957.1:p.Ala351Thr | |
| NM_001374497.1:c.1462G>A | NP_001361426.1:p.Ala488Thr | |
| NM_001374498.1:c.1399G>A | NP_001361427.1:p.Ala467Thr | |
| NM_001374499.1:c.1144G>A | NP_001361428.1:p.Ala382Thr | |
| NM_001374500.1:c.1030G>A | NP_001361429.1:p.Ala344Thr | |
| NM_001374501.1:c.1060G>A | NP_001361430.1:p.Ala354Thr | |
| NM_001374502.1:c.1060G>A | NP_001361431.1:p.Ala354Thr | |
| NM_001374503.1:c.1060G>A | NP_001361432.1:p.Ala354Thr | |
| NR_164653.1:n.1568G>A | ||
| NR_164654.1:n.1836G>A |