Linked Data
ClinVar Variation Id:
219638
ClinVar RCV Id:
RCV000205153
dbSNP Id:
rs114255772
ExAC:
16:89592774 T / C
gnomAD v2:
16-89592774-T-C
gnomAD v3:
16-89526366-T-C
gnomAD v4:
16-89526366-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.89526366T>C , CM000678.2:g.89526366T>C | GRCh38 |
| NC_000016.9:g.89592774T>C , CM000678.1:g.89592774T>C | GRCh37 |
| NC_000016.8:g.88120275T>C | NCBI36 |
| NG_008082.1:g.22970T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000268704.7:c.656T>C | ENSP00000268704.3:p.Ile219Thr | |
| ENST00000562775.2:n.520T>C | ||
| ENST00000564047.2:n.665T>C | ||
| ENST00000564409.2:c.425T>C | ENSP00000495297.1:p.Ile142Thr | |
| ENST00000566371.6:c.618+2119T>C | ENSP00000454475.2:n.618+2119T>C | |
| ENST00000642334.1:c.529T>C | ||
| ENST00000642371.1:c.550+2119T>C | ||
| ENST00000642427.1:n.56T>C | ||
| ENST00000642436.1:n.388+13329T>C | ||
| ENST00000643105.1:c.576T>C | ||
| ENST00000643178.1:n.304T>C | ||
| ENST00000643307.1:c.656T>C | ENSP00000495673.1:p.Ile219Thr | |
| ENST00000643345.1:c.377-2769T>C | ENSP00000493982.1:n.377-2769T>C | |
| ENST00000643496.1:n.473T>C | ||
| ENST00000643649.1:c.656T>C | ENSP00000494806.1:p.Ile219Thr | |
| ENST00000643668.1:c.*684T>C | ENSP00000494903.1:n.*684T>C | |
| ENST00000643724.1:c.656T>C | ENSP00000496335.1:p.Ile219Thr | |
| ENST00000643954.1:c.394T>C | ||
| ENST00000643957.1:c.817T>C | ENSP00000494246.1:n.817T>C | |
| ENST00000644210.1:c.656T>C | ENSP00000495675.1:p.Ile219Thr | |
| ENST00000644225.1:n.673T>C | ||
| ENST00000644498.1:c.656T>C | ENSP00000496244.1:p.Ile219Thr | |
| ENST00000644671.1:c.319T>C | ||
| ENST00000644748.1:n.2087T>C | ||
| ENST00000644751.1:c.58T>C | ||
| ENST00000644781.1:c.656T>C | ENSP00000495473.1:p.Ile219Thr | |
| ENST00000644901.1:c.656T>C | ENSP00000493797.1:p.Ile219Thr | |
| ENST00000645042.1:c.656T>C | ENSP00000493908.1:p.Ile219Thr | |
| ENST00000645063.1:c.656T>C | ENSP00000493590.1:p.Ile219Thr | |
| ENST00000645354.1:c.571T>C | ||
| ENST00000645533.1:c.656T>C | ENSP00000495690.1:p.Ile219Thr | |
| ENST00000645818.2:c.656T>C MANE Select | ENSP00000495795.2:p.Ile219Thr | |
| ENST00000645897.1:c.656T>C | ENSP00000495293.1:p.Ile219Thr | |
| ENST00000645977.1:n.671T>C | ||
| ENST00000646263.1:c.656T>C | ENSP00000494119.1:p.Ile219Thr | |
| ENST00000646303.1:c.524T>C | ENSP00000494160.1:p.Ile175Thr | |
| ENST00000646399.1:c.339T>C | ||
| ENST00000646445.1:c.182+13329T>C | ||
| ENST00000646531.1:c.656T>C | ENSP00000495185.1:p.Ile219Thr | |
| ENST00000646589.1:c.377-4317T>C | ENSP00000494739.1:n.377-4317T>C | |
| ENST00000646716.1:c.376+13329T>C | ENSP00000495593.1:n.376+13329T>C | |
| ENST00000646826.1:c.656T>C | ENSP00000495123.1:p.Ile219Thr | |
| ENST00000646930.1:c.656T>C | ENSP00000495219.1:p.Ile219Thr | |
| ENST00000646958.1:n.606T>C | ||
| ENST00000647032.1:c.271T>C | ||
| ENST00000647079.1:c.248T>C | ENSP00000495967.1:p.Ile83Thr | |
| ENST00000647227.1:c.419T>C | ||
| ENST00000268704.6:c.656T>C | ENSP00000268704.2:p.Ile219Thr | |
| ENST00000341316.6:c.656T>C | ENSP00000341157.2:p.Ile219Thr | |
| ENST00000562775.1:n.1566T>C | ||
| ENST00000564047.1:n.82T>C | ||
| ENST00000620811.4:c.-921T>C | ENSP00000478030.1:n.-921T>C | |
| NM_003119.3:c.656T>C | NP_003110.1:p.Ile219Thr | |
| NM_199367.2:c.656T>C | NP_955399.1:p.Ile219Thr | |
| XM_005256321.3:c.656T>C | XP_005256378.1:p.Ile219Thr | |
| XM_006721264.2:c.656T>C | XP_006721327.1:p.Ile219Thr | |
| XM_011523306.1:c.656T>C | XP_011521608.1:p.Ile219Thr | |
| XM_011523307.1:c.656T>C | XP_011521609.1:p.Ile219Thr | |
| NM_001363850.1:c.656T>C | NP_001350779.1:p.Ile219Thr | |
| XM_005256321.4:c.656T>C | XP_005256378.1:p.Ile219Thr | |
| XM_006721264.4:c.656T>C | XP_006721327.1:p.Ile219Thr | |
| XM_017023597.1:c.656T>C | XP_016879086.1:p.Ile219Thr | |
| XM_017023598.1:c.656T>C | XP_016879087.1:p.Ile219Thr | |
| XR_001751971.2:n.695T>C | ||
| XR_001751972.2:n.695T>C | ||
| NM_003119.4:c.656T>C MANE Select | NP_003110.1:p.Ile219Thr | |
| NM_199367.3:c.656T>C | NP_955399.1:p.Ile219Thr |