Linked Data
ClinVar Variation Id:
390378
dbSNP Id:
rs562890289
ExAC:
16:89611178 C / T
gnomAD v2:
16-89611178-C-T
gnomAD v3:
16-89544770-C-T
gnomAD v4:
16-89544770-C-T
PubMed:
PMID:28832565
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.89544770C>T , CM000678.2:g.89544770C>T | GRCh38 |
| NC_000016.9:g.89611178C>T , CM000678.1:g.89611178C>T | GRCh37 |
| NC_000016.8:g.88138679C>T | NCBI36 |
| NG_008082.1:g.41374C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000268704.7:c.1426C>T | ENSP00000268704.3:p.Gln476Ter | |
| ENST00000561945.2:n.592C>T | ||
| ENST00000566682.2:c.460C>T | ENSP00000461979.2:p.Gln154Ter | |
| ENST00000569820.6:c.123C>T | ||
| ENST00000642226.1:n.1081C>T | ||
| ENST00000642263.1:n.198C>T | ||
| ENST00000642334.1:c.2656C>T | ||
| ENST00000642427.1:n.847C>T | ||
| ENST00000642814.1:n.862C>T | ||
| ENST00000642984.1:n.1043C>T | ||
| ENST00000643105.1:c.1367C>T | ||
| ENST00000643345.1:c.*971C>T | ENSP00000493982.1:n.*971C>T | |
| ENST00000643350.1:n.295C>T | ||
| ENST00000643370.1:c.621C>T | ENSP00000494895.1:n.621C>T | |
| ENST00000643409.1:n.1086C>T | ||
| ENST00000643496.1:n.1264C>T | ||
| ENST00000643649.1:c.1447C>T | ENSP00000494806.1:p.Gln483Ter | |
| ENST00000643668.1:c.*1741C>T | ENSP00000494903.1:n.*1741C>T | |
| ENST00000643724.1:c.*498-1888C>T | ENSP00000496335.1:n.*498-1888C>T | |
| ENST00000643734.1:n.4360C>T | ||
| ENST00000643954.1:c.2346C>T | ||
| ENST00000644061.1:n.405C>T | ||
| ENST00000644171.1:n.1421C>T | ||
| ENST00000644210.1:c.1447C>T | ENSP00000495675.1:p.Gln483Ter | |
| ENST00000644225.1:n.1464C>T | ||
| ENST00000644498.1:c.*1266C>T | ENSP00000496244.1:n.*1266C>T | |
| ENST00000644556.1:n.260+3498C>T | ||
| ENST00000644671.1:c.1104C>T | ||
| ENST00000644748.1:n.2878C>T | ||
| ENST00000644751.1:c.849C>T | ||
| ENST00000644781.1:c.1447C>T | ENSP00000495473.1:p.Gln483Ter | |
| ENST00000644901.1:c.*1841C>T | ENSP00000493797.1:n.*1841C>T | |
| ENST00000644930.1:n.1787C>T | ||
| ENST00000645042.1:c.1447C>T | ENSP00000493908.1:p.Gln483Ter | |
| ENST00000645063.1:c.1447C>T | ENSP00000493590.1:p.Gln483Ter | |
| ENST00000645258.1:c.781C>T | ||
| ENST00000645354.1:c.2207C>T | ||
| ENST00000645392.1:n.1788C>T | ||
| ENST00000645818.2:c.1447C>T MANE Select | ENSP00000495795.2:p.Gln483Ter | |
| ENST00000645842.1:n.1083C>T | ||
| ENST00000645886.1:c.952C>T | ||
| ENST00000645897.1:c.988-1888C>T | ENSP00000495293.1:n.988-1888C>T | |
| ENST00000645944.1:n.911C>T | ||
| ENST00000645952.1:n.1002C>T | ||
| ENST00000645977.1:n.2565C>T | ||
| ENST00000646005.1:n.1081C>T | ||
| ENST00000646263.1:c.*161C>T | ENSP00000494119.1:n.*161C>T | |
| ENST00000646303.1:c.1315C>T | ENSP00000494160.1:p.Gln439Ter | |
| ENST00000646399.1:c.2341C>T | ||
| ENST00000646445.1:c.305C>T | ||
| ENST00000646454.1:n.711-1888C>T | ||
| ENST00000646531.1:c.1447C>T | ENSP00000495185.1:p.Gln483Ter | |
| ENST00000646543.1:n.792C>T | ||
| ENST00000646589.1:c.*575C>T | ENSP00000494739.1:n.*575C>T | |
| ENST00000646716.1:c.499C>T | ENSP00000495593.1:p.Gln167Ter | |
| ENST00000646826.1:c.1447C>T | ENSP00000495123.1:p.Gln483Ter | |
| ENST00000646930.1:c.*1217C>T | ENSP00000495219.1:n.*1217C>T | |
| ENST00000646958.1:n.2492C>T | ||
| ENST00000647032.1:c.1062C>T | ||
| ENST00000647079.1:c.1039C>T | ENSP00000495967.1:p.Gln347Ter | |
| ENST00000647123.1:n.1195C>T | ||
| ENST00000647227.1:c.1088-1888C>T | ||
| ENST00000647302.1:n.1787C>T | ||
| ENST00000647491.1:n.1032C>T | ||
| ENST00000268704.6:c.1447C>T | ENSP00000268704.2:p.Gln483Ter | |
| ENST00000563218.5:n.173C>T | ||
| ENST00000566221.5:c.45C>T | ||
| ENST00000569820.5:c.123C>T | ||
| ENST00000620811.4:c.-130C>T | ENSP00000478030.1:n.-130C>T | |
| NM_003119.3:c.1447C>T | NP_003110.1:p.Gln483Ter | |
| XM_006721264.2:c.1447C>T | XP_006721327.1:p.Gln483Ter | |
| XM_011523306.1:c.1447C>T | XP_011521608.1:p.Gln483Ter | |
| NM_001363850.1:c.1447C>T | NP_001350779.1:p.Gln483Ter | |
| XM_006721264.4:c.1447C>T | XP_006721327.1:p.Gln483Ter | |
| XM_017023597.1:c.1447C>T | XP_016879086.1:p.Gln483Ter | |
| XM_017023598.1:c.1447C>T | XP_016879087.1:p.Gln483Ter | |
| XR_001751971.2:n.1486C>T | ||
| XR_001751972.2:n.1486C>T | ||
| NM_003119.4:c.1447C>T MANE Select | NP_003110.1:p.Gln483Ter |