Linked Data
ClinVar Variation Id:
280116
ClinVar RCV Id:
RCV000356855
RCV000584794
RCV001535890
RCV001843038
RCV002252077
RCV002519040
RCV003448977
dbSNP Id:
rs376161880
ExAC:
11:77817941 G / A
gnomAD v2:
11-77817941-G-A
gnomAD v3:
11-78106895-G-A
gnomAD v4:
11-78106895-G-A
PubMed:
PMID:28375157
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.78106895G>A , CM000673.2:g.78106895G>A | GRCh38 |
| NC_000011.9:g.77817941G>A , CM000673.1:g.77817941G>A | GRCh37 |
| NC_000011.8:g.77495589G>A | NCBI36 |
| NG_008926.1:g.37759C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299626.10:c.1090C>T MANE Select | ENSP00000299626.5:p.Arg364Ter | |
| ENST00000524925.2:n.1168C>T | ||
| ENST00000525761.3:c.826C>T | ENSP00000431357.3:p.Arg276Ter | |
| ENST00000525783.6:c.826C>T | ENSP00000434066.2:p.Arg276Ter | |
| ENST00000525870.6:c.1038+2547C>T | ENSP00000435417.2:n.1038+2547C>T | |
| ENST00000526737.6:c.*621C>T | ENSP00000436366.2:n.*621C>T | |
| ENST00000526849.6:c.994C>T | ENSP00000434388.2:p.Arg332Ter | |
| ENST00000527099.2:c.826C>T | ENSP00000436064.2:p.Arg276Ter | |
| ENST00000529139.6:c.916C>T | ENSP00000432953.2:p.Arg306Ter | |
| ENST00000530608.6:c.889C>T | ENSP00000432381.2:p.Arg297Ter | |
| ENST00000530910.6:c.826C>T | ENSP00000437033.2:p.Arg276Ter | |
| ENST00000532306.6:c.829C>T | ENSP00000435626.2:p.Arg277Ter | |
| ENST00000532440.6:c.1138C>T | ENSP00000433429.2:p.Arg380Ter | |
| ENST00000615266.5:c.1090C>T | ENSP00000480742.2:p.Arg364Ter | |
| ENST00000679444.1:c.826C>T | ENSP00000506099.1:p.Arg276Ter | |
| ENST00000679497.1:c.826C>T | ENSP00000505407.1:p.Arg276Ter | |
| ENST00000679539.1:c.1090C>T | ENSP00000504910.1:p.Arg364Ter | |
| ENST00000679559.1:c.1090C>T | ENSP00000505433.1:p.Arg364Ter | |
| ENST00000679581.1:n.1792C>T | ||
| ENST00000679648.1:c.*621C>T | ENSP00000505726.1:n.*621C>T | |
| ENST00000679685.1:c.*440C>T | ENSP00000505698.1:n.*440C>T | |
| ENST00000679697.1:c.899-2442C>T | ENSP00000505696.1:n.899-2442C>T | |
| ENST00000679874.1:c.*587C>T | ENSP00000506314.1:n.*587C>T | |
| ENST00000679986.1:c.*621C>T | ENSP00000505614.1:n.*621C>T | |
| ENST00000680063.1:c.*621C>T | ENSP00000504928.1:n.*621C>T | |
| ENST00000680101.1:c.826C>T | ENSP00000504917.1:p.Arg276Ter | |
| ENST00000680142.1:n.922C>T | ||
| ENST00000680223.1:c.1090C>T | ENSP00000505023.1:p.Arg364Ter | |
| ENST00000680256.1:c.1093C>T | ENSP00000505074.1:p.Arg365Ter | |
| ENST00000680329.1:c.826C>T | ENSP00000506215.1:p.Arg276Ter | |
| ENST00000680398.1:c.1090C>T | ENSP00000506189.1:p.Arg364Ter | |
| ENST00000680399.1:c.916C>T | ENSP00000505984.1:p.Arg306Ter | |
| ENST00000680459.1:c.*713C>T | ENSP00000506617.1:n.*713C>T | |
| ENST00000680467.1:c.*26C>T | ENSP00000505609.1:n.*26C>T | |
| ENST00000680499.1:c.826C>T | ENSP00000506092.1:p.Arg276Ter | |
| ENST00000680580.1:c.826C>T | ENSP00000506170.1:p.Arg276Ter | |
| ENST00000680643.1:c.1090C>T | ENSP00000505207.1:p.Arg364Ter | |
| ENST00000680761.1:c.826C>T | ENSP00000506421.1:p.Arg276Ter | |
| ENST00000680797.1:c.*587C>T | ENSP00000506717.1:n.*587C>T | |
| ENST00000680829.1:c.826C>T | ENSP00000506408.1:p.Arg276Ter | |
| ENST00000680866.1:c.1056C>T | ENSP00000505649.1:p.Ser352= | |
| ENST00000680996.1:c.792C>T | ENSP00000505468.1:p.Ser264= | |
| ENST00000681221.1:c.826C>T | ENSP00000505136.1:p.Arg276Ter | |
| ENST00000681225.1:c.826C>T | ENSP00000505016.1:p.Arg276Ter | |
| ENST00000681351.1:c.792C>T | ENSP00000506652.1:p.Ser264= | |
| ENST00000681384.1:c.*26C>T | ENSP00000506249.1:n.*26C>T | |
| ENST00000681417.1:c.826C>T | ENSP00000505965.1:p.Arg276Ter | |
| ENST00000681489.1:c.826C>T | ENSP00000505200.1:p.Arg276Ter | |
| ENST00000681575.1:c.826C>T | ENSP00000505743.1:p.Arg276Ter | |
| ENST00000681699.1:c.919C>T | ENSP00000504969.1:p.Arg307Ter | |
| ENST00000681723.1:c.792C>T | ENSP00000506059.1:p.Ser264= | |
| ENST00000681765.1:c.652C>T | ENSP00000505811.1:p.Arg218Ter | |
| ENST00000681853.1:n.1784C>T | ||
| ENST00000681957.1:c.1056C>T | ENSP00000506056.1:p.Ser352= | |
| ENST00000299626.9:c.1090C>T | ENSP00000299626.5:p.Arg364Ter | |
| ENST00000376156.7:c.1090C>T | ENSP00000365326.3:p.Arg364Ter | |
| ENST00000524925.1:n.388C>T | ||
| ENST00000525783.5:c.242+2547C>T | ||
| ENST00000526737.5:c.*722C>T | ENSP00000436366.1:n.*722C>T | |
| ENST00000526849.5:c.103C>T | ENSP00000434388.1:p.Arg35Ter | |
| ENST00000530608.5:c.195C>T | ||
| ENST00000532306.5:c.450C>T | ||
| ENST00000532440.5:c.592C>T | ENSP00000433429.1:p.Arg198Ter | |
| ENST00000532552.2:n.279C>T | ||
| ENST00000615266.4:c.1090C>T | ENSP00000480742.1:p.Arg364Ter | |
| NM_001007027.2:c.1090C>T | NP_001007028.1:p.Arg364Ter | |
| NM_024079.4:c.1090C>T | NP_076984.2:p.Arg364Ter | |
| XM_005274247.2:c.1063C>T | XP_005274304.1:p.Arg355Ter | |
| XM_011545251.1:c.916C>T | XP_011543553.1:p.Arg306Ter | |
| XM_011545252.1:c.826C>T | XP_011543554.1:p.Arg276Ter | |
| XR_428923.2:n.1128C>T | ||
| XR_950044.1:n.1111-2442C>T | ||
| XR_950045.1:n.1111-2442C>T | ||
| XM_005274247.3:c.1063C>T | XP_005274304.1:p.Arg355Ter | |
| XM_011545252.2:c.826C>T | XP_011543554.1:p.Arg276Ter | |
| XM_017018274.1:c.1063C>T | XP_016873763.1:p.Arg355Ter | |
| XR_001747956.1:n.1878C>T | ||
| XR_428923.4:n.1111C>T | ||
| XR_950044.3:n.1094-2442C>T | ||
| XR_950045.3:n.1094-2442C>T | ||
| NM_024079.5:c.1090C>T MANE Select | NP_076984.2:p.Arg364Ter | |
| NM_001007027.3:c.1090C>T | NP_001007028.1:p.Arg364Ter |