Linked Data
ClinVar Variation Id:
215194
dbSNP Id:
rs2099104
ExAC:
16:89619540 T / A
gnomAD v2:
16-89619540-T-A
gnomAD v3:
16-89553132-T-A
gnomAD v4:
16-89553132-T-A
PubMed:
PMID:28832565
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.89553132T>A , CM000678.2:g.89553132T>A | GRCh38 |
| NC_000016.9:g.89619540T>A , CM000678.1:g.89619540T>A | GRCh37 |
| NC_000016.8:g.88147041T>A | NCBI36 |
| NG_008082.1:g.49736T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000268704.7:c.1912T>A | ENSP00000268704.3:p.Ser638Thr | |
| ENST00000561702.6:n.2605T>A | ||
| ENST00000566682.2:c.946T>A | ENSP00000461979.2:p.Ser316Thr | |
| ENST00000569720.2:n.616T>A | ||
| ENST00000569820.6:c.2206T>A | ||
| ENST00000642226.1:n.1996T>A | ||
| ENST00000642334.1:c.3351T>A | ||
| ENST00000642814.1:n.1348T>A | ||
| ENST00000642984.1:n.1656T>A | ||
| ENST00000643105.1:c.2639T>A | ||
| ENST00000643350.1:n.1347T>A | ||
| ENST00000643409.1:n.2358T>A | ||
| ENST00000643496.1:n.1750T>A | ||
| ENST00000643649.1:c.1822T>A | ENSP00000494806.1:p.Ser608Thr | |
| ENST00000643668.1:c.*2227T>A | ENSP00000494903.1:n.*2227T>A | |
| ENST00000643724.1:c.*981T>A | ENSP00000496335.1:n.*981T>A | |
| ENST00000643954.1:c.2832T>A | ||
| ENST00000644171.1:n.2693T>A | ||
| ENST00000644210.1:c.*505T>A | ENSP00000495675.1:n.*505T>A | |
| ENST00000644225.1:n.1950T>A | ||
| ENST00000644281.1:n.1959T>A | ||
| ENST00000644464.1:n.586T>A | ||
| ENST00000644498.1:c.*1752T>A | ENSP00000496244.1:n.*1752T>A | |
| ENST00000644671.1:c.1590T>A | ||
| ENST00000644751.1:c.1121T>A | ||
| ENST00000644781.1:c.1888T>A | ENSP00000495473.1:p.Ser630Thr | |
| ENST00000644901.1:c.*2327T>A | ENSP00000493797.1:n.*2327T>A | |
| ENST00000645042.1:c.*707T>A | ENSP00000493908.1:n.*707T>A | |
| ENST00000645063.1:c.1933T>A | ENSP00000493590.1:p.Ser645Thr | |
| ENST00000645354.1:c.2693T>A | ||
| ENST00000645392.1:n.2274T>A | ||
| ENST00000645742.1:n.567T>A | ||
| ENST00000645818.2:c.1933T>A MANE Select | ENSP00000495795.2:p.Ser645Thr | |
| ENST00000645842.1:n.1778T>A | ||
| ENST00000645886.1:c.1438T>A | ||
| ENST00000645897.1:c.1471T>A | ENSP00000495293.1:p.Ser491Thr | |
| ENST00000645952.1:n.1798T>A | ||
| ENST00000645977.1:n.3051T>A | ||
| ENST00000646005.1:n.1691T>A | ||
| ENST00000646263.1:c.*806T>A | ENSP00000494119.1:n.*806T>A | |
| ENST00000646303.1:c.1801T>A | ENSP00000494160.1:p.Ser601Thr | |
| ENST00000646399.1:c.2827T>A | ||
| ENST00000646445.1:c.791T>A | ||
| ENST00000646531.1:c.*556T>A | ENSP00000495185.1:n.*556T>A | |
| ENST00000646589.1:c.*1061T>A | ENSP00000494739.1:n.*1061T>A | |
| ENST00000646716.1:c.985T>A | ENSP00000495593.1:p.Ser329Thr | |
| ENST00000646826.1:c.*606T>A | ENSP00000495123.1:n.*606T>A | |
| ENST00000646930.1:c.*1862T>A | ENSP00000495219.1:n.*1862T>A | |
| ENST00000647032.1:c.1548T>A | ||
| ENST00000647079.1:c.1525T>A | ENSP00000495967.1:p.Ser509Thr | |
| ENST00000647123.1:n.1890T>A | ||
| ENST00000647227.1:c.1571T>A | ||
| ENST00000647302.1:n.2583T>A | ||
| ENST00000647476.1:n.820T>A | ||
| ENST00000647491.1:n.1677T>A | ||
| ENST00000268704.6:c.1933T>A | ENSP00000268704.2:p.Ser645Thr | |
| ENST00000561702.5:n.918T>A | ||
| ENST00000561911.5:c.478T>A | ENSP00000457387.1:p.Ser160Thr | |
| ENST00000566682.1:c.69T>A | ||
| ENST00000568205.1:n.228T>A | ||
| ENST00000569820.5:c.1175T>A | ||
| ENST00000620811.4:c.695T>A | ENSP00000478030.1:p.Phe232Tyr | |
| NM_003119.3:c.1933T>A | NP_003110.1:p.Ser645Thr | |
| XM_006721264.2:c.1933T>A | XP_006721327.1:p.Ser645Thr | |
| NM_001363850.1:c.1933T>A | NP_001350779.1:p.Ser645Thr | |
| XM_006721264.4:c.1933T>A | XP_006721327.1:p.Ser645Thr | |
| XR_001751971.2:n.2282T>A | ||
| XR_001751972.2:n.3569T>A | ||
| NM_003119.4:c.1933T>A MANE Select | NP_003110.1:p.Ser645Thr |