Linked Data
ClinVar Variation Id:
139244
dbSNP Id:
rs574656941
ExAC:
16:89616891 C / A
gnomAD v2:
16-89616891-C-A
gnomAD v3:
16-89550483-C-A
gnomAD v4:
16-89550483-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.89550483C>A , CM000678.2:g.89550483C>A | GRCh38 |
| NC_000016.9:g.89616891C>A , CM000678.1:g.89616891C>A | GRCh37 |
| NC_000016.8:g.88144392C>A | NCBI36 |
| NG_008082.1:g.47087C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000268704.7:c.1643-11C>A | ENSP00000268704.3:n.1643-11C>A | |
| ENST00000561702.6:n.2325C>A | ||
| ENST00000566682.2:c.677-11C>A | ENSP00000461979.2:n.677-11C>A | |
| ENST00000569820.6:c.1937-11C>A | ||
| ENST00000642226.1:n.1727-11C>A | ||
| ENST00000642334.1:c.3082-11C>A | ||
| ENST00000642814.1:n.1079-11C>A | ||
| ENST00000642984.1:n.1260-11C>A | ||
| ENST00000643105.1:c.2370-11C>A | ||
| ENST00000643350.1:n.1078-11C>A | ||
| ENST00000643409.1:n.2089-11C>A | ||
| ENST00000643496.1:n.1481-11C>A | ||
| ENST00000643649.1:c.1553-11C>A | ENSP00000494806.1:n.1553-11C>A | |
| ENST00000643668.1:c.*1958-11C>A | ENSP00000494903.1:n.*1958-11C>A | |
| ENST00000643724.1:c.*712-11C>A | ENSP00000496335.1:n.*712-11C>A | |
| ENST00000643954.1:c.2563-11C>A | ||
| ENST00000644171.1:n.2424-11C>A | ||
| ENST00000644210.1:c.*236-11C>A | ENSP00000495675.1:n.*236-11C>A | |
| ENST00000644225.1:n.1681-11C>A | ||
| ENST00000644464.1:n.317-11C>A | ||
| ENST00000644498.1:c.*1483-11C>A | ENSP00000496244.1:n.*1483-11C>A | |
| ENST00000644671.1:c.1321-11C>A | ||
| ENST00000644751.1:c.852-11C>A | ||
| ENST00000644781.1:c.1664-11C>A | ENSP00000495473.1:n.1664-11C>A | |
| ENST00000644901.1:c.*2058-11C>A | ENSP00000493797.1:n.*2058-11C>A | |
| ENST00000645042.1:c.*438-11C>A | ENSP00000493908.1:n.*438-11C>A | |
| ENST00000645063.1:c.1664-11C>A | ENSP00000493590.1:n.1664-11C>A | |
| ENST00000645354.1:c.2424-11C>A | ||
| ENST00000645392.1:n.2005-11C>A | ||
| ENST00000645742.1:n.298-11C>A | ||
| ENST00000645818.2:c.1664-11C>A MANE Select | ENSP00000495795.2:n.1664-11C>A | |
| ENST00000645842.1:n.1509-11C>A | ||
| ENST00000645886.1:c.1169-11C>A | ||
| ENST00000645897.1:c.1202-11C>A | ENSP00000495293.1:n.1202-11C>A | |
| ENST00000645952.1:n.1529-11C>A | ||
| ENST00000645977.1:n.2782-11C>A | ||
| ENST00000646005.1:n.1422-11C>A | ||
| ENST00000646263.1:c.*537-11C>A | ENSP00000494119.1:n.*537-11C>A | |
| ENST00000646303.1:c.1532-11C>A | ENSP00000494160.1:n.1532-11C>A | |
| ENST00000646399.1:c.2558-11C>A | ||
| ENST00000646445.1:c.522-11C>A | ||
| ENST00000646531.1:c.*287-11C>A | ENSP00000495185.1:n.*287-11C>A | |
| ENST00000646589.1:c.*792-11C>A | ENSP00000494739.1:n.*792-11C>A | |
| ENST00000646716.1:c.716-11C>A | ENSP00000495593.1:n.716-11C>A | |
| ENST00000646826.1:c.*337-11C>A | ENSP00000495123.1:n.*337-11C>A | |
| ENST00000646930.1:c.*1593-11C>A | ENSP00000495219.1:n.*1593-11C>A | |
| ENST00000647032.1:c.1279-11C>A | ||
| ENST00000647079.1:c.1256-11C>A | ENSP00000495967.1:n.1256-11C>A | |
| ENST00000647123.1:n.1621-11C>A | ||
| ENST00000647227.1:c.1302-11C>A | ||
| ENST00000647302.1:n.2314-11C>A | ||
| ENST00000647476.1:n.540C>A | ||
| ENST00000647491.1:n.1408-11C>A | ||
| ENST00000268704.6:c.1664-11C>A | ENSP00000268704.2:n.1664-11C>A | |
| ENST00000561702.5:n.638C>A | ||
| ENST00000561911.5:c.209-11C>A | ENSP00000457387.1:n.209-11C>A | |
| ENST00000565370.1:n.449-11C>A | ||
| ENST00000566221.5:c.518-11C>A | ||
| ENST00000569820.5:c.906-11C>A | ||
| ENST00000620811.4:c.439-11C>A | ENSP00000478030.1:n.439-11C>A | |
| NM_003119.3:c.1664-11C>A | NP_003110.1:n.1664-11C>A | |
| XM_006721264.2:c.1664-11C>A | XP_006721327.1:n.1664-11C>A | |
| NM_001363850.1:c.1664-11C>A | NP_001350779.1:n.1664-11C>A | |
| XM_006721264.4:c.1664-11C>A | XP_006721327.1:n.1664-11C>A | |
| XR_001751971.2:n.2013-11C>A | ||
| XR_001751972.2:n.3300-11C>A | ||
| NM_003119.4:c.1664-11C>A MANE Select | NP_003110.1:n.1664-11C>A |