Linked Data
ClinVar Variation Id:
217269
dbSNP Id:
rs72547551
ExAC:
16:89616953 C / T
gnomAD v2:
16-89616953-C-T
gnomAD v3:
16-89550545-C-T
gnomAD v4:
16-89550545-C-T
COSMIC:
COSM5473822
PubMed:
PMID:26626314
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.89550545C>T , CM000678.2:g.89550545C>T | GRCh38 |
| NC_000016.9:g.89616953C>T , CM000678.1:g.89616953C>T | GRCh37 |
| NC_000016.8:g.88144454C>T | NCBI36 |
| NG_008082.1:g.47149C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000268704.7:c.1694C>T | ENSP00000268704.3:p.Ala565Val | |
| ENST00000561702.6:n.2387C>T | ||
| ENST00000566682.2:c.728C>T | ENSP00000461979.2:p.Ala243Val | |
| ENST00000569820.6:c.1988C>T | ||
| ENST00000642226.1:n.1778C>T | ||
| ENST00000642334.1:c.3133C>T | ||
| ENST00000642814.1:n.1130C>T | ||
| ENST00000642984.1:n.1311C>T | ||
| ENST00000643105.1:c.2421C>T | ||
| ENST00000643350.1:n.1129C>T | ||
| ENST00000643409.1:n.2140C>T | ||
| ENST00000643496.1:n.1532C>T | ||
| ENST00000643649.1:c.1604C>T | ENSP00000494806.1:p.Ala535Val | |
| ENST00000643668.1:c.*2009C>T | ENSP00000494903.1:n.*2009C>T | |
| ENST00000643724.1:c.*763C>T | ENSP00000496335.1:n.*763C>T | |
| ENST00000643954.1:c.2614C>T | ||
| ENST00000644171.1:n.2475C>T | ||
| ENST00000644210.1:c.*287C>T | ENSP00000495675.1:n.*287C>T | |
| ENST00000644225.1:n.1732C>T | ||
| ENST00000644464.1:n.368C>T | ||
| ENST00000644498.1:c.*1534C>T | ENSP00000496244.1:n.*1534C>T | |
| ENST00000644671.1:c.1372C>T | ||
| ENST00000644751.1:c.903C>T | ||
| ENST00000644781.1:c.1715C>T | ENSP00000495473.1:p.Ala572Val | |
| ENST00000644901.1:c.*2109C>T | ENSP00000493797.1:n.*2109C>T | |
| ENST00000645042.1:c.*489C>T | ENSP00000493908.1:n.*489C>T | |
| ENST00000645063.1:c.1715C>T | ENSP00000493590.1:p.Ala572Val | |
| ENST00000645354.1:c.2475C>T | ||
| ENST00000645392.1:n.2056C>T | ||
| ENST00000645742.1:n.349C>T | ||
| ENST00000645818.2:c.1715C>T MANE Select | ENSP00000495795.2:p.Ala572Val | |
| ENST00000645842.1:n.1560C>T | ||
| ENST00000645886.1:c.1220C>T | ||
| ENST00000645897.1:c.1253C>T | ENSP00000495293.1:p.Ala418Val | |
| ENST00000645952.1:n.1580C>T | ||
| ENST00000645977.1:n.2833C>T | ||
| ENST00000646005.1:n.1473C>T | ||
| ENST00000646263.1:c.*588C>T | ENSP00000494119.1:n.*588C>T | |
| ENST00000646303.1:c.1583C>T | ENSP00000494160.1:p.Ala528Val | |
| ENST00000646399.1:c.2609C>T | ||
| ENST00000646445.1:c.573C>T | ||
| ENST00000646531.1:c.*338C>T | ENSP00000495185.1:n.*338C>T | |
| ENST00000646589.1:c.*843C>T | ENSP00000494739.1:n.*843C>T | |
| ENST00000646716.1:c.767C>T | ENSP00000495593.1:p.Ala256Val | |
| ENST00000646826.1:c.*388C>T | ENSP00000495123.1:n.*388C>T | |
| ENST00000646930.1:c.*1644C>T | ENSP00000495219.1:n.*1644C>T | |
| ENST00000647032.1:c.1330C>T | ||
| ENST00000647079.1:c.1307C>T | ENSP00000495967.1:p.Ala436Val | |
| ENST00000647123.1:n.1672C>T | ||
| ENST00000647227.1:c.1353C>T | ||
| ENST00000647302.1:n.2365C>T | ||
| ENST00000647476.1:n.602C>T | ||
| ENST00000647491.1:n.1459C>T | ||
| ENST00000268704.6:c.1715C>T | ENSP00000268704.2:p.Ala572Val | |
| ENST00000561702.5:n.700C>T | ||
| ENST00000561911.5:c.260C>T | ENSP00000457387.1:p.Ala87Val | |
| ENST00000565370.1:n.500C>T | ||
| ENST00000566221.5:c.569C>T | ||
| ENST00000568205.1:n.10C>T | ||
| ENST00000569820.5:c.957C>T | ||
| ENST00000620811.4:c.490C>T | ENSP00000478030.1:p.Arg164Cys | |
| NM_003119.3:c.1715C>T | NP_003110.1:p.Ala572Val | |
| XM_006721264.2:c.1715C>T | XP_006721327.1:p.Ala572Val | |
| NM_001363850.1:c.1715C>T | NP_001350779.1:p.Ala572Val | |
| XM_006721264.4:c.1715C>T | XP_006721327.1:p.Ala572Val | |
| XR_001751971.2:n.2064C>T | ||
| XR_001751972.2:n.3351C>T | ||
| NM_003119.4:c.1715C>T MANE Select | NP_003110.1:p.Ala572Val |