Linked Data
ClinVar Variation Id:
350470
dbSNP Id:
rs763204818
ExAC:
5:118872149 G / A
gnomAD v2:
5-118872149-G-A
gnomAD v3:
5-119536454-G-A
gnomAD v4:
5-119536454-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.119536454G>A , CM000667.2:g.119536454G>A | GRCh38 |
| NC_000005.9:g.118872149G>A , CM000667.1:g.118872149G>A | GRCh37 |
| NC_000005.8:g.118900048G>A | NCBI36 |
| NG_008182.1:g.89002G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000509514.6:c.1956G>A | ENSP00000426272.2:p.Val652= | |
| ENST00000518349.6:c.1269G>A | ENSP00000507185.1:p.Val423= | |
| ENST00000682445.1:c.*1906G>A | ENSP00000508061.1:n.*1906G>A | |
| ENST00000682531.1:n.3917G>A | ||
| ENST00000682626.1:c.*1531G>A | ENSP00000507857.1:n.*1531G>A | |
| ENST00000682996.1:c.1953G>A | ENSP00000507792.1:p.Val651= | |
| ENST00000683265.1:n.3811G>A | ||
| ENST00000683335.1:n.3427G>A | ||
| ENST00000683371.1:c.*2155G>A | ENSP00000508376.1:n.*2155G>A | |
| ENST00000683372.1:n.4035G>A | ||
| ENST00000683390.1:n.8733G>A | ||
| ENST00000683476.1:n.867G>A | ||
| ENST00000683549.1:n.3639G>A | ||
| ENST00000683936.1:c.*3603G>A | ENSP00000507721.1:n.*3603G>A | |
| ENST00000683974.1:n.3754G>A | ||
| ENST00000683996.1:c.*1235G>A | ENSP00000507060.1:n.*1235G>A | |
| ENST00000684131.1:n.3557G>A | ||
| ENST00000684160.1:c.*1715G>A | ENSP00000507821.1:n.*1715G>A | |
| ENST00000684214.1:c.*20G>A | ENSP00000508071.1:n.*20G>A | |
| ENST00000414835.7:c.2100G>A | ENSP00000411960.3:p.Val700= | |
| ENST00000510025.7:c.2025G>A MANE Select | ENSP00000424940.3:p.Val675= | |
| ENST00000643250.1:c.*1897G>A | ENSP00000494737.1:n.*1897G>A | |
| ENST00000643897.1:c.17G>A | ||
| ENST00000644146.1:c.*3296G>A | ENSP00000494808.1:n.*3296G>A | |
| ENST00000645099.1:c.1584G>A | ENSP00000496091.1:p.Val528= | |
| ENST00000645702.1:c.*1428G>A | ENSP00000496432.1:n.*1428G>A | |
| ENST00000645832.1:c.*1910G>A | ENSP00000494316.1:n.*1910G>A | |
| ENST00000646058.1:c.2025G>A | ENSP00000493579.1:p.Val675= | |
| ENST00000646355.1:c.*2031G>A | ENSP00000493801.1:n.*2031G>A | |
| ENST00000646554.1:c.*2003G>A | ENSP00000494542.1:n.*2003G>A | |
| ENST00000647335.1:c.*1992G>A | ENSP00000495180.1:n.*1992G>A | |
| ENST00000647342.1:c.*1956G>A | ENSP00000494992.1:n.*1956G>A | |
| ENST00000256216.10:c.2025G>A | ENSP00000256216.6:p.Val675= | |
| ENST00000414835.6:c.1605G>A | ENSP00000411960.2:p.Val535= | |
| ENST00000442060.7:c.*580G>A | ENSP00000390208.3:n.*580G>A | |
| ENST00000503310.1:n.685G>A | ||
| ENST00000504811.5:c.2100G>A | ENSP00000420914.1:p.Val700= | |
| ENST00000509514.5:c.1239G>A | ENSP00000426272.1:p.Val413= | |
| ENST00000509606.1:n.320G>A | ||
| ENST00000509951.5:n.310-5451G>A | ||
| ENST00000510025.5:c.1953G>A | ENSP00000424940.1:p.Val651= | |
| ENST00000513628.5:c.1614G>A | ENSP00000425993.1:p.Val538= | |
| ENST00000515235.6:n.3778G>A | ||
| ENST00000515320.5:c.1971G>A | ENSP00000424613.1:p.Val657= | |
| ENST00000522415.5:n.692G>A | ||
| NM_000414.3:c.2025G>A | NP_000405.1:p.Val675= | |
| NM_001199291.2:c.2100G>A | NP_001186220.1:p.Val700= | |
| NM_001199292.1:c.1971G>A | NP_001186221.1:p.Val657= | |
| NM_001292027.1:c.1953G>A | NP_001278956.1:p.Val651= | |
| NM_001292028.1:c.1605G>A | NP_001278957.1:p.Val535= | |
| NM_000414.4:c.2025G>A MANE Select | NP_000405.1:p.Val675= | |
| NM_001199291.3:c.2100G>A | NP_001186220.1:p.Val700= | |
| NM_001199292.2:c.1971G>A | NP_001186221.1:p.Val657= | |
| NM_001292027.2:c.1953G>A | NP_001278956.1:p.Val651= | |
| NM_001292028.2:c.1605G>A | NP_001278957.1:p.Val535= | |
| NM_001374497.1:c.2016G>A | NP_001361426.1:p.Val672= | |
| NM_001374498.1:c.1953G>A | NP_001361427.1:p.Val651= | |
| NM_001374499.1:c.1698G>A | NP_001361428.1:p.Val566= | |
| NM_001374500.1:c.1584G>A | NP_001361429.1:p.Val528= | |
| NM_001374501.1:c.1614G>A | NP_001361430.1:p.Val538= | |
| NM_001374502.1:c.1614G>A | NP_001361431.1:p.Val538= | |
| NM_001374503.1:c.1614G>A | NP_001361432.1:p.Val538= | |
| NR_164653.1:n.2122G>A | ||
| NR_164654.1:n.2390G>A |