Linked Data
ClinVar Variation Id:
321286
ClinVar RCV Id:
RCV000373621
dbSNP Id:
rs140356355
ExAC:
16:89620236 C / T
gnomAD v2:
16-89620236-C-T
gnomAD v3:
16-89553828-C-T
gnomAD v4:
16-89553828-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.89553828C>T , CM000678.2:g.89553828C>T | GRCh38 |
| NC_000016.9:g.89620236C>T , CM000678.1:g.89620236C>T | GRCh37 |
| NC_000016.8:g.88147737C>T | NCBI36 |
| NG_008082.1:g.50432C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000268704.7:c.1950C>T | ENSP00000268704.3:p.Ile650= | |
| ENST00000561702.6:n.2643C>T | ||
| ENST00000566682.2:c.1012C>T | ENSP00000461979.2:p.Arg338Cys | |
| ENST00000569720.2:n.654C>T | ||
| ENST00000569820.6:c.2244C>T | ||
| ENST00000642226.1:n.2034C>T | ||
| ENST00000642334.1:c.3389C>T | ||
| ENST00000642814.1:n.1386C>T | ||
| ENST00000642984.1:n.1694C>T | ||
| ENST00000643105.1:c.2677C>T | ||
| ENST00000643350.1:n.1385C>T | ||
| ENST00000643409.1:n.2396C>T | ||
| ENST00000643496.1:n.1788C>T | ||
| ENST00000643649.1:c.1860C>T | ENSP00000494806.1:p.Ile620= | |
| ENST00000643668.1:c.*2265C>T | ENSP00000494903.1:n.*2265C>T | |
| ENST00000643724.1:c.*1019C>T | ENSP00000496335.1:n.*1019C>T | |
| ENST00000643954.1:c.2870C>T | ||
| ENST00000644171.1:n.2731C>T | ||
| ENST00000644210.1:c.*543C>T | ENSP00000495675.1:n.*543C>T | |
| ENST00000644225.1:n.1988C>T | ||
| ENST00000644281.1:n.2655C>T | ||
| ENST00000644464.1:n.624C>T | ||
| ENST00000644498.1:c.*1790C>T | ENSP00000496244.1:n.*1790C>T | |
| ENST00000644671.1:c.1628C>T | ||
| ENST00000644751.1:c.1159C>T | ||
| ENST00000644781.1:c.1926C>T | ENSP00000495473.1:p.Ile642= | |
| ENST00000644901.1:c.*2365C>T | ENSP00000493797.1:n.*2365C>T | |
| ENST00000645042.1:c.*745C>T | ENSP00000493908.1:n.*745C>T | |
| ENST00000645063.1:c.1971C>T | ENSP00000493590.1:p.Ile657= | |
| ENST00000645354.1:c.2731C>T | ||
| ENST00000645392.1:n.2312C>T | ||
| ENST00000645742.1:n.605C>T | ||
| ENST00000645818.2:c.1971C>T MANE Select | ENSP00000495795.2:p.Ile657= | |
| ENST00000645842.1:n.1816C>T | ||
| ENST00000645886.1:c.1476C>T | ||
| ENST00000645897.1:c.1509C>T | ENSP00000495293.1:p.Ile503= | |
| ENST00000645952.1:n.1836C>T | ||
| ENST00000645977.1:n.3089C>T | ||
| ENST00000646005.1:n.1729C>T | ||
| ENST00000646263.1:c.*844C>T | ENSP00000494119.1:n.*844C>T | |
| ENST00000646303.1:c.1839C>T | ENSP00000494160.1:p.Ile613= | |
| ENST00000646399.1:c.2865C>T | ||
| ENST00000646445.1:c.829C>T | ||
| ENST00000646531.1:c.*594C>T | ENSP00000495185.1:n.*594C>T | |
| ENST00000646589.1:c.*1099C>T | ENSP00000494739.1:n.*1099C>T | |
| ENST00000646716.1:c.1023C>T | ENSP00000495593.1:p.Ile341= | |
| ENST00000646826.1:c.*644C>T | ENSP00000495123.1:n.*644C>T | |
| ENST00000646930.1:c.*1900C>T | ENSP00000495219.1:n.*1900C>T | |
| ENST00000647032.1:c.1586C>T | ||
| ENST00000647079.1:c.1563C>T | ENSP00000495967.1:p.Ile521= | |
| ENST00000647123.1:n.1928C>T | ||
| ENST00000647227.1:c.1609C>T | ||
| ENST00000647302.1:n.2621C>T | ||
| ENST00000647476.1:n.858C>T | ||
| ENST00000647491.1:n.1715C>T | ||
| ENST00000268704.6:c.1971C>T | ENSP00000268704.2:p.Ile657= | |
| ENST00000561702.5:n.956C>T | ||
| ENST00000561911.5:c.571C>T | ENSP00000457387.1:p.Arg191Cys | |
| ENST00000566682.1:c.107C>T | ||
| ENST00000569720.1:n.162C>T | ||
| ENST00000569820.5:c.1213C>T | ||
| ENST00000620811.4:c.*17C>T | ENSP00000478030.1:n.*17C>T | |
| NM_003119.3:c.1971C>T | NP_003110.1:p.Ile657= | |
| XM_006721264.2:c.1971C>T | XP_006721327.1:p.Ile657= | |
| NM_001363850.1:c.1971C>T | NP_001350779.1:p.Ile657= | |
| XM_006721264.4:c.1971C>T | XP_006721327.1:p.Ile657= | |
| XR_001751971.2:n.2320C>T | ||
| XR_001751972.2:n.3607C>T | ||
| NM_003119.4:c.1971C>T MANE Select | NP_003110.1:p.Ile657= |