Linked Data
ClinVar Variation Id:
461649
dbSNP Id:
rs200907784
ExAC:
7:909148 G / A
gnomAD v2:
7-909148-G-A
gnomAD v3:
7-869511-G-A
gnomAD v4:
7-869511-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.869511G>A , CM000669.2:g.869511G>A | GRCh38 |
| NC_000007.13:g.909148G>A , CM000669.1:g.909148G>A | GRCh37 |
| NC_000007.12:g.875674G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000401592.6:c.2143G>A MANE Select | ENSP00000384015.1:p.Val715Ile | |
| ENST00000389574.7:c.1894G>A | ENSP00000374225.3:p.Val632Ile | |
| ENST00000401592.5:c.2143G>A | ENSP00000384015.1:p.Val715Ile | |
| ENST00000405266.5:c.2254G>A | ENSP00000384116.1:p.Val752Ile | |
| ENST00000413171.6:n.2702G>A | ||
| ENST00000425407.6:c.1894G>A | ENSP00000392309.2:p.Val632Ile | |
| ENST00000429178.5:c.1918G>A | ENSP00000409909.1:p.Val640Ile | |
| ENST00000433212.5:c.1688G>A | ||
| ENST00000452783.6:c.1834G>A | ENSP00000413439.2:p.Val612Ile | |
| ENST00000457861.1:c.1133+3444G>A | ||
| ENST00000475971.5:n.2252G>A | ||
| ENST00000497943.1:n.1038G>A | ||
| NM_001130965.2:c.2143G>A | NP_001124437.1:p.Val715Ile | |
| NM_001171944.1:c.1834G>A | NP_001165415.1:p.Val612Ile | |
| NM_025154.5:c.1894G>A | NP_079430.3:p.Val632Ile | |
| NM_001130965.3:c.2143G>A MANE Select | NP_001124437.1:p.Val715Ile | |
| NM_001171944.2:c.1834G>A | NP_001165415.1:p.Val612Ile | |
| NM_001367633.1:c.2143G>A | NP_001354562.1:p.Val715Ile | |
| NM_001367634.1:c.2143G>A | NP_001354563.1:p.Val715Ile | |
| NM_001367635.1:c.1792G>A | NP_001354564.1:p.Val598Ile | |
| NM_001367636.1:c.2383G>A | NP_001354565.1:p.Val795Ile | |
| NM_001367638.1:c.2251G>A | NP_001354567.1:p.Val751Ile | |
| NM_001367639.1:c.1684G>A | NP_001354568.1:p.Val562Ile | |
| NM_001367640.1:c.2323G>A | NP_001354569.1:p.Val775Ile | |
| NM_001367641.1:c.2425G>A | NP_001354570.1:p.Val809Ile | |
| NM_001367642.1:c.2128G>A | NP_001354571.1:p.Val710Ile | |
| NM_001367643.1:c.2335G>A | NP_001354572.1:p.Val779Ile | |
| NM_001367644.1:c.2074G>A | NP_001354573.1:p.Val692Ile | |
| NM_001367645.1:c.2191G>A | NP_001354574.1:p.Val731Ile | |
| NM_001367646.1:c.2272G>A | NP_001354575.1:p.Val758Ile | |
| NM_001367647.1:c.2185G>A | NP_001354576.1:p.Val729Ile | |
| NM_001367648.1:c.2005G>A | NP_001354577.1:p.Val669Ile | |
| NM_001367649.1:c.2188G>A | NP_001354578.1:p.Val730Ile | |
| NM_001367651.1:c.2557G>A | NP_001354580.1:p.Val853Ile | |
| NM_001367653.1:c.2143G>A | NP_001354582.1:p.Val715Ile | |
| NM_001367655.1:c.2353G>A | NP_001354584.1:p.Val785Ile | |
| NM_001367658.1:c.1429G>A | NP_001354587.1:p.Val477Ile | |
| NM_001367660.1:c.1960G>A | NP_001354589.1:p.Val654Ile | |
| NM_001367662.1:c.1990G>A | NP_001354591.1:p.Val664Ile | |
| NM_001367664.1:c.2254G>A | NP_001354593.1:p.Val752Ile | |
| NM_001367665.1:c.2140G>A | NP_001354594.1:p.Val714Ile | |
| NM_001367666.1:c.2386G>A | NP_001354595.1:p.Val796Ile | |
| NM_001367667.1:c.2104G>A | NP_001354596.1:p.Val702Ile | |
| NM_001367668.1:c.2185G>A | NP_001354597.1:p.Val729Ile | |
| NM_001367669.1:c.2170G>A | NP_001354598.1:p.Val724Ile | |
| NM_001367670.1:c.1993G>A | NP_001354599.1:p.Val665Ile | |
| NM_001367671.1:c.1990G>A | NP_001354600.1:p.Val664Ile | |
| NM_001367672.1:c.2110G>A | NP_001354601.1:p.Val704Ile | |
| NM_001367673.1:c.2275G>A | NP_001354602.1:p.Val759Ile | |
| NM_001367674.1:c.2341G>A | NP_001354603.1:p.Val781Ile | |
| NM_001367675.1:c.2293G>A | NP_001354604.1:p.Val765Ile | |
| NM_001367676.1:c.2326G>A | NP_001354605.1:p.Val776Ile | |
| NM_001367677.1:c.2449G>A | NP_001354606.1:p.Val817Ile | |
| NM_001367678.1:c.2533G>A | NP_001354607.1:p.Val845Ile | |
| NM_001367679.1:c.2101G>A | NP_001354608.1:p.Val701Ile | |
| NM_001367680.1:c.2077G>A | NP_001354609.1:p.Val693Ile | |
| NM_001367681.1:c.2191G>A | NP_001354610.1:p.Val731Ile | |
| NM_001367682.1:c.2425G>A | NP_001354611.1:p.Val809Ile | |
| NM_001367683.1:c.2227G>A | NP_001354612.1:p.Val743Ile | |
| NM_001367684.1:c.2302G>A | NP_001354613.1:p.Val768Ile | |
| NM_001367685.1:c.2254G>A | NP_001354614.1:p.Val752Ile | |
| NM_001367686.1:c.1975G>A | NP_001354615.1:p.Val659Ile | |
| NM_001367688.1:c.2224G>A | NP_001354617.1:p.Val742Ile | |
| NM_001367689.1:c.2104G>A | NP_001354618.1:p.Val702Ile | |
| NM_001367690.1:c.2434G>A | NP_001354619.1:p.Val812Ile | |
| NM_001367691.1:c.2383G>A | NP_001354620.1:p.Val795Ile | |
| NM_001367692.1:c.2452G>A | NP_001354621.1:p.Val818Ile | |
| NM_001367693.1:c.2338G>A | NP_001354622.1:p.Val780Ile | |
| NM_001367694.1:c.2140G>A | NP_001354623.1:p.Val714Ile | |
| NM_001367695.1:c.2065G>A | NP_001354624.1:p.Val689Ile | |
| NM_001367696.1:c.2221G>A | NP_001354625.1:p.Val741Ile | |
| NM_001367697.1:c.2338G>A | NP_001354626.1:p.Val780Ile | |
| NM_001367698.1:c.2422G>A | NP_001354627.1:p.Val808Ile | |
| NM_001367699.1:c.2533G>A | NP_001354628.1:p.Val845Ile | |
| NM_001367700.1:c.2353G>A | NP_001354629.1:p.Val785Ile | |
| NM_001367701.1:c.2044G>A | NP_001354630.1:p.Val682Ile | |
| NM_001367702.1:c.2155G>A | NP_001354631.1:p.Val719Ile | |
| NM_001367703.1:c.2536G>A | NP_001354632.1:p.Val846Ile | |
| NM_001367704.1:c.2155G>A | NP_001354633.1:p.Val719Ile | |
| NM_001367705.1:c.2536G>A | NP_001354634.1:p.Val846Ile | |
| NM_001367706.1:c.2275G>A | NP_001354635.1:p.Val759Ile | |
| NM_001367707.1:c.2272G>A | NP_001354636.1:p.Val758Ile | |
| NM_001367708.1:c.1576G>A | NP_001354637.1:p.Val526Ile | |
| NM_025154.6:c.1894G>A | NP_079430.3:p.Val632Ile | |
| NR_160281.1:n.2191G>A | ||
| NR_160282.1:n.2517G>A | ||
| NR_160283.1:n.2295G>A |