Linked Data
ClinVar Variation Id:
306227
dbSNP Id:
rs538716086
ExAC:
11:77850603 C / G
gnomAD v2:
11-77850603-C-G
gnomAD v3:
11-78139557-C-G
gnomAD v4:
11-78139557-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.78139557C>G , CM000673.2:g.78139557C>G | GRCh38 |
| NC_000011.9:g.77850603C>G , CM000673.1:g.77850603C>G | GRCh37 |
| NC_000011.8:g.77528251C>G | NCBI36 |
| NG_008926.1:g.5097G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299626.10:c.32G>C MANE Select | ENSP00000299626.5:p.Gly11Ala | |
| ENST00000525755.6:c.32G>C | ENSP00000435467.2:p.Gly11Ala | |
| ENST00000525761.3:c.-291G>C | ENSP00000431357.3:n.-291G>C | |
| ENST00000525783.6:c.-154G>C | ENSP00000434066.2:n.-154G>C | |
| ENST00000525870.6:c.32G>C | ENSP00000435417.2:p.Gly11Ala | |
| ENST00000526737.6:c.32G>C | ENSP00000436366.2:p.Gly11Ala | |
| ENST00000526849.6:c.32G>C | ENSP00000434388.2:p.Gly11Ala | |
| ENST00000527099.2:c.-351G>C | ENSP00000436064.2:n.-351G>C | |
| ENST00000529139.6:c.32G>C | ENSP00000432953.2:p.Gly11Ala | |
| ENST00000530454.6:c.32G>C | ENSP00000434660.2:p.Gly11Ala | |
| ENST00000530608.6:c.32G>C | ENSP00000432381.2:p.Gly11Ala | |
| ENST00000532306.6:c.32G>C | ENSP00000435626.2:p.Gly11Ala | |
| ENST00000532440.6:c.32G>C | ENSP00000433429.2:p.Gly11Ala | |
| ENST00000615266.5:c.32G>C | ENSP00000480742.2:p.Gly11Ala | |
| ENST00000679444.1:c.-637G>C | ENSP00000506099.1:n.-637G>C | |
| ENST00000679497.1:c.-1135G>C | ENSP00000505407.1:n.-1135G>C | |
| ENST00000679539.1:c.32G>C | ENSP00000504910.1:p.Gly11Ala | |
| ENST00000679559.1:c.32G>C | ENSP00000505433.1:p.Gly11Ala | |
| ENST00000679648.1:c.-154G>C | ENSP00000505726.1:n.-154G>C | |
| ENST00000679685.1:c.-1017G>C | ENSP00000505698.1:n.-1017G>C | |
| ENST00000679697.1:c.32G>C | ENSP00000505696.1:p.Gly11Ala | |
| ENST00000679874.1:c.-1553G>C | ENSP00000506314.1:n.-1553G>C | |
| ENST00000679986.1:c.-351G>C | ENSP00000505614.1:n.-351G>C | |
| ENST00000680063.1:c.-484G>C | ENSP00000504928.1:n.-484G>C | |
| ENST00000680101.1:c.-216G>C | ENSP00000504917.1:n.-216G>C | |
| ENST00000680142.1:n.57G>C | ||
| ENST00000680223.1:c.32G>C | ENSP00000505023.1:p.Gly11Ala | |
| ENST00000680256.1:c.32G>C | ENSP00000505074.1:p.Gly11Ala | |
| ENST00000680398.1:c.32G>C | ENSP00000506189.1:p.Gly11Ala | |
| ENST00000680399.1:c.32G>C | ENSP00000505984.1:p.Gly11Ala | |
| ENST00000680459.1:c.32G>C | ENSP00000506617.1:p.Gly11Ala | |
| ENST00000680467.1:c.32G>C | ENSP00000505609.1:p.Gly11Ala | |
| ENST00000680580.1:c.-484G>C | ENSP00000506170.1:n.-484G>C | |
| ENST00000680643.1:c.32G>C | ENSP00000505207.1:p.Gly11Ala | |
| ENST00000680761.1:c.-198G>C | ENSP00000506421.1:n.-198G>C | |
| ENST00000680797.1:c.-1017G>C | ENSP00000506717.1:n.-1017G>C | |
| ENST00000680829.1:c.-1017G>C | ENSP00000506408.1:n.-1017G>C | |
| ENST00000680866.1:c.32G>C | ENSP00000505649.1:p.Gly11Ala | |
| ENST00000680996.1:c.-1017G>C | ENSP00000505468.1:n.-1017G>C | |
| ENST00000681221.1:c.-154G>C | ENSP00000505136.1:n.-154G>C | |
| ENST00000681351.1:c.-1017G>C | ENSP00000506652.1:n.-1017G>C | |
| ENST00000681384.1:c.-1017G>C | ENSP00000506249.1:n.-1017G>C | |
| ENST00000681489.1:c.-351G>C | ENSP00000505200.1:n.-351G>C | |
| ENST00000681575.1:c.-1021G>C | ENSP00000505743.1:n.-1021G>C | |
| ENST00000681699.1:c.-1006G>C | ENSP00000504969.1:n.-1006G>C | |
| ENST00000681723.1:c.-351G>C | ENSP00000506059.1:n.-351G>C | |
| ENST00000681957.1:c.32G>C | ENSP00000506056.1:p.Gly11Ala | |
| ENST00000299626.9:c.32G>C | ENSP00000299626.5:p.Gly11Ala | |
| ENST00000376156.7:c.32G>C | ENSP00000365326.3:p.Gly11Ala | |
| ENST00000525755.5:c.-43G>C | ENSP00000435467.1:n.-43G>C | |
| ENST00000525761.2:c.-105G>C | ENSP00000431357.2:n.-105G>C | |
| ENST00000525870.5:c.-198G>C | ENSP00000435417.1:n.-198G>C | |
| ENST00000526737.5:c.32G>C | ENSP00000436366.1:p.Gly11Ala | |
| ENST00000526928.1:n.88G>C | ||
| ENST00000527099.1:c.-351G>C | ENSP00000436064.1:n.-351G>C | |
| ENST00000530454.5:c.32G>C | ENSP00000434660.1:p.Gly11Ala | |
| ENST00000532050.5:c.32G>C | ENSP00000437199.1:p.Gly11Ala | |
| ENST00000532552.2:n.58G>C | ||
| ENST00000615266.4:c.32G>C | ENSP00000480742.1:p.Gly11Ala | |
| NM_001007027.2:c.32G>C | NP_001007028.1:p.Gly11Ala | |
| NM_024079.4:c.32G>C | NP_076984.2:p.Gly11Ala | |
| XM_011545251.1:c.32G>C | XP_011543553.1:p.Gly11Ala | |
| XM_011545252.1:c.-254G>C | XP_011543554.1:n.-254G>C | |
| XR_428923.2:n.104G>C | ||
| XR_950044.1:n.104G>C | ||
| XR_950045.1:n.104G>C | ||
| XM_005274247.3:c.-780G>C | XP_005274304.1:n.-780G>C | |
| XM_011545252.2:c.-254G>C | XP_011543554.1:n.-254G>C | |
| XM_017018274.1:c.-780G>C | XP_016873763.1:n.-780G>C | |
| XR_001747956.1:n.70G>C | ||
| XR_428923.4:n.87G>C | ||
| XR_950044.3:n.87G>C | ||
| XR_950045.3:n.87G>C | ||
| NM_024079.5:c.32G>C MANE Select | NP_076984.2:p.Gly11Ala | |
| NM_001007027.3:c.32G>C | NP_001007028.1:p.Gly11Ala |