Linked Data
ClinVar Variation Id:
939502
ClinVar RCV Id:
RCV001208916
dbSNP Id:
rs769413308
ExAC:
11:77812162 C / G
gnomAD v2:
11-77812162-C-G
gnomAD v3:
11-78101116-C-G
gnomAD v4:
11-78101116-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.78101116C>G , CM000673.2:g.78101116C>G | GRCh38 |
| NC_000011.9:g.77812162C>G , CM000673.1:g.77812162C>G | GRCh37 |
| NC_000011.8:g.77489810C>G | NCBI36 |
| NG_008926.1:g.43538G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299626.10:c.1429G>C MANE Select | ENSP00000299626.5:p.Val477Leu | |
| ENST00000524925.2:n.1507G>C | ||
| ENST00000525761.3:c.1165G>C | ENSP00000431357.3:p.Val389Leu | |
| ENST00000525783.6:c.1165G>C | ENSP00000434066.2:p.Val389Leu | |
| ENST00000525870.6:c.1118G>C | ENSP00000435417.2:n.1118G>C | |
| ENST00000526737.6:c.*960G>C | ENSP00000436366.2:n.*960G>C | |
| ENST00000526849.6:c.1333G>C | ENSP00000434388.2:p.Val445Leu | |
| ENST00000527099.2:c.1165G>C | ENSP00000436064.2:p.Val389Leu | |
| ENST00000529139.6:c.1255G>C | ENSP00000432953.2:p.Val419Leu | |
| ENST00000530608.6:c.1228G>C | ENSP00000432381.2:p.Val410Leu | |
| ENST00000530910.6:c.1165G>C | ENSP00000437033.2:p.Val389Leu | |
| ENST00000532306.6:c.1168G>C | ENSP00000435626.2:p.Val390Leu | |
| ENST00000532440.6:c.1477G>C | ENSP00000433429.2:p.Val493Leu | |
| ENST00000615266.5:c.1356G>C | ENSP00000480742.2:p.Leu452Phe | |
| ENST00000679444.1:c.1165G>C | ENSP00000506099.1:p.Val389Leu | |
| ENST00000679497.1:c.1165G>C | ENSP00000505407.1:p.Val389Leu | |
| ENST00000679539.1:c.*140G>C | ENSP00000504910.1:n.*140G>C | |
| ENST00000679559.1:c.1429G>C | ENSP00000505433.1:p.Val477Leu | |
| ENST00000679581.1:n.2131G>C | ||
| ENST00000679648.1:c.*1035G>C | ENSP00000505726.1:n.*1035G>C | |
| ENST00000679685.1:c.*779G>C | ENSP00000505698.1:n.*779G>C | |
| ENST00000679697.1:c.*207G>C | ENSP00000505696.1:n.*207G>C | |
| ENST00000679874.1:c.*926G>C | ENSP00000506314.1:n.*926G>C | |
| ENST00000679986.1:c.*960G>C | ENSP00000505614.1:n.*960G>C | |
| ENST00000680063.1:c.*960G>C | ENSP00000504928.1:n.*960G>C | |
| ENST00000680101.1:c.*100G>C | ENSP00000504917.1:n.*100G>C | |
| ENST00000680142.1:n.1261G>C | ||
| ENST00000680223.1:c.*312G>C | ENSP00000505023.1:n.*312G>C | |
| ENST00000680256.1:c.1432G>C | ENSP00000505074.1:p.Val478Leu | |
| ENST00000680329.1:c.1165G>C | ENSP00000506215.1:p.Val389Leu | |
| ENST00000680398.1:c.1429G>C | ENSP00000506189.1:p.Val477Leu | |
| ENST00000680399.1:c.*100G>C | ENSP00000505984.1:n.*100G>C | |
| ENST00000680459.1:c.*1052G>C | ENSP00000506617.1:n.*1052G>C | |
| ENST00000680467.1:c.*365G>C | ENSP00000505609.1:n.*365G>C | |
| ENST00000680499.1:c.*100G>C | ENSP00000506092.1:n.*100G>C | |
| ENST00000680580.1:c.1165G>C | ENSP00000506170.1:p.Val389Leu | |
| ENST00000680761.1:c.1165G>C | ENSP00000506421.1:p.Val389Leu | |
| ENST00000680797.1:c.*926G>C | ENSP00000506717.1:n.*926G>C | |
| ENST00000680829.1:c.*100G>C | ENSP00000506408.1:n.*100G>C | |
| ENST00000680866.1:c.*330G>C | ENSP00000505649.1:n.*330G>C | |
| ENST00000680996.1:c.*405G>C | ENSP00000505468.1:n.*405G>C | |
| ENST00000681221.1:c.*100G>C | ENSP00000505136.1:n.*100G>C | |
| ENST00000681225.1:c.1165G>C | ENSP00000505016.1:p.Val389Leu | |
| ENST00000681351.1:c.*330G>C | ENSP00000506652.1:n.*330G>C | |
| ENST00000681384.1:c.*365G>C | ENSP00000506249.1:n.*365G>C | |
| ENST00000681417.1:c.1165G>C | ENSP00000505965.1:p.Val389Leu | |
| ENST00000681489.1:c.1165G>C | ENSP00000505200.1:p.Val389Leu | |
| ENST00000681575.1:c.1165G>C | ENSP00000505743.1:p.Val389Leu | |
| ENST00000681699.1:c.1258G>C | ENSP00000504969.1:p.Val420Leu | |
| ENST00000681723.1:c.*330G>C | ENSP00000506059.1:n.*330G>C | |
| ENST00000681765.1:c.991G>C | ENSP00000505811.1:p.Val331Leu | |
| ENST00000681853.1:n.2123G>C | ||
| ENST00000299626.9:c.1429G>C | ENSP00000299626.5:p.Val477Leu | |
| ENST00000376156.7:c.*100G>C | ENSP00000365326.3:n.*100G>C | |
| ENST00000525783.5:c.322G>C | ||
| ENST00000526737.5:c.*1061G>C | ENSP00000436366.1:n.*1061G>C | |
| ENST00000526849.5:c.442G>C | ENSP00000434388.1:p.Val148Leu | |
| ENST00000530608.5:c.534G>C | ||
| ENST00000531213.5:n.347G>C | ||
| ENST00000532306.5:c.789G>C | ||
| NM_001007027.2:c.*100G>C | NP_001007028.1:n.*100G>C | |
| NM_024079.4:c.1429G>C | NP_076984.2:p.Val477Leu | |
| XM_005274247.2:c.1402G>C | XP_005274304.1:p.Val468Leu | |
| XM_011545251.1:c.1255G>C | XP_011543553.1:p.Val419Leu | |
| XM_011545252.1:c.1165G>C | XP_011543554.1:p.Val389Leu | |
| XR_428923.2:n.1467G>C | ||
| XR_950044.1:n.1361G>C | ||
| XR_950045.1:n.1436G>C | ||
| XM_005274247.3:c.1402G>C | XP_005274304.1:p.Val468Leu | |
| XM_011545252.2:c.1165G>C | XP_011543554.1:p.Val389Leu | |
| XM_017018274.1:c.*100G>C | XP_016873763.1:n.*100G>C | |
| XR_001747956.1:n.2217G>C | ||
| XR_428923.4:n.1450G>C | ||
| XR_950044.3:n.1344G>C | ||
| XR_950045.3:n.1419G>C | ||
| NM_024079.5:c.1429G>C MANE Select | NP_076984.2:p.Val477Leu | |
| NM_001007027.3:c.*100G>C | NP_001007028.1:n.*100G>C |