Linked Data
ClinVar Variation Id:
212641
ClinVar RCV Id:
RCV000194065
dbSNP Id:
rs376664624
ExAC:
10:99510223 C / T
gnomAD v2:
10-99510223-C-T
gnomAD v3:
10-97750466-C-T
gnomAD v4:
10-97750466-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.97750466C>T , CM000672.2:g.97750466C>T | GRCh38 |
| NC_000010.10:g.99510223C>T , CM000672.1:g.99510223C>T | GRCh37 |
| NC_000010.9:g.99500213C>T | NCBI36 |
| NG_017075.1:g.18346C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684270.1:c.800C>T MANE Select | ENSP00000506975.1:p.Thr267Met | |
| ENST00000337540.11:c.704C>T | ENSP00000337993.7:p.Thr235Met | |
| ENST00000357540.8:c.542C>T | ENSP00000350148.4:p.Thr181Met | |
| ENST00000359980.5:c.800C>T | ENSP00000353069.3:p.Thr267Met | |
| ENST00000370610.7:c.506C>T | ENSP00000359642.3:p.Thr169Met | |
| ENST00000370613.7:c.446C>T | ENSP00000359646.3:p.Thr149Met | |
| ENST00000393677.8:c.800C>T | ENSP00000377282.3:p.Thr267Met | |
| ENST00000423811.3:c.800C>T | ENSP00000409594.2:p.Thr267Met | |
| ENST00000481956.1:n.434C>T | ||
| NM_001002261.3:c.800C>T | NP_001002261.1:p.Thr267Met | |
| NM_001002262.3:c.800C>T | NP_001002262.1:p.Thr267Met | |
| NM_001174119.1:c.704C>T | NP_001167590.1:p.Thr235Met | |
| NM_001174120.1:c.542C>T | NP_001167591.1:p.Thr181Met | |
| NM_001174121.1:c.506C>T | NP_001167592.1:p.Thr169Met | |
| NM_001174122.1:c.446C>T | NP_001167593.1:p.Thr149Met | |
| NM_144588.6:c.800C>T | NP_653189.3:p.Thr267Met | |
| XM_005269502.2:c.800C>T | XP_005269559.1:p.Thr267Met | |
| XM_005269503.2:c.800C>T | XP_005269560.1:p.Thr267Met | |
| XM_005269504.2:c.800C>T | XP_005269561.1:p.Thr267Met | |
| XM_005269505.3:c.800C>T | XP_005269562.1:p.Thr267Met | |
| XM_005269506.2:c.800C>T | XP_005269563.1:p.Thr267Met | |
| XM_005269508.2:c.563C>T | XP_005269565.1:p.Thr188Met | |
| XM_005269509.2:c.563C>T | XP_005269566.1:p.Thr188Met | |
| XM_005269510.2:c.542C>T | XP_005269567.1:p.Thr181Met | |
| XM_005269511.2:c.542C>T | XP_005269568.1:p.Thr181Met | |
| XM_011539252.1:c.800C>T | XP_011537554.1:p.Thr267Met | |
| XM_011539253.1:c.800C>T | XP_011537555.1:p.Thr267Met | |
| XM_011539254.1:c.596C>T | XP_011537556.1:p.Thr199Met | |
| XM_011539255.1:c.596C>T | XP_011537557.1:p.Thr199Met | |
| XM_011539256.1:c.596C>T | XP_011537558.1:p.Thr199Met | |
| XR_945594.1:n.1000C>T | ||
| XR_945595.1:n.1000C>T | ||
| XR_945596.1:n.1000C>T | ||
| XR_945597.1:n.977C>T | ||
| XM_005269502.3:c.800C>T | XP_005269559.1:p.Thr267Met | |
| XM_005269503.3:c.800C>T | XP_005269560.1:p.Thr267Met | |
| XM_005269504.3:c.800C>T | XP_005269561.1:p.Thr267Met | |
| XM_005269505.4:c.800C>T | XP_005269562.1:p.Thr267Met | |
| XM_005269506.3:c.800C>T | XP_005269563.1:p.Thr267Met | |
| XM_005269508.4:c.563C>T | XP_005269565.1:p.Thr188Met | |
| XM_005269509.3:c.563C>T | XP_005269566.1:p.Thr188Met | |
| XM_005269510.3:c.542C>T | XP_005269567.1:p.Thr181Met | |
| XM_005269511.3:c.542C>T | XP_005269568.1:p.Thr181Met | |
| XM_011539252.2:c.800C>T | XP_011537554.1:p.Thr267Met | |
| XM_011539253.2:c.800C>T | XP_011537555.1:p.Thr267Met | |
| XM_011539254.2:c.596C>T | XP_011537556.1:p.Thr199Met | |
| XM_011539255.2:c.596C>T | XP_011537557.1:p.Thr199Met | |
| XM_017015644.1:c.800C>T | XP_016871133.1:p.Thr267Met | |
| XM_017015645.1:c.800C>T | XP_016871134.1:p.Thr267Met | |
| XM_017015646.1:c.800C>T | XP_016871135.1:p.Thr267Met | |
| XM_017015647.1:c.800C>T | XP_016871136.1:p.Thr267Met | |
| XM_017015648.1:c.542C>T | XP_016871137.1:p.Thr181Met | |
| XM_017015649.1:c.542C>T | XP_016871138.1:p.Thr181Met | |
| XM_017015650.1:c.596C>T | XP_016871139.1:p.Thr199Met | |
| XM_017015651.2:c.563C>T | XP_016871140.1:p.Thr188Met | |
| XM_017015652.1:c.563C>T | XP_016871141.1:p.Thr188Met | |
| XM_017015653.2:c.563C>T | XP_016871142.1:p.Thr188Met | |
| XM_017015654.1:c.563C>T | XP_016871143.1:p.Thr188Met | |
| XM_017015655.1:c.542C>T | XP_016871144.1:p.Thr181Met | |
| XR_002956956.1:n.999C>T | ||
| XR_002956957.1:n.977C>T | ||
| XR_945594.2:n.995C>T | ||
| XR_945597.2:n.977C>T | ||
| NM_001002262.4:c.800C>T | NP_001002262.1:p.Thr267Met | |
| NM_144588.7:c.800C>T | NP_653189.3:p.Thr267Met | |
| NM_001002261.4:c.800C>T | NP_001002261.1:p.Thr267Met | |
| NM_001174119.2:c.704C>T | NP_001167590.1:p.Thr235Met | |
| NM_001174120.2:c.542C>T | NP_001167591.1:p.Thr181Met | |
| NM_001174121.2:c.506C>T | NP_001167592.1:p.Thr169Met | |
| NM_001174122.2:c.446C>T | NP_001167593.1:p.Thr149Met | |
| NM_001385871.1:c.800C>T | NP_001372800.1:p.Thr267Met | |
| NM_001385875.1:c.800C>T MANE Select | NP_001372804.1:p.Thr267Met | |
| NM_001385876.1:c.839C>T | NP_001372805.1:p.Thr280Met | |
| NM_001385877.1:c.800C>T | NP_001372806.1:p.Thr267Met | |
| NM_001385878.1:c.800C>T | NP_001372807.1:p.Thr267Met | |
| NM_001385879.1:c.800C>T | NP_001372808.1:p.Thr267Met | |
| NM_001385880.1:c.800C>T | NP_001372809.1:p.Thr267Met | |
| NM_001385881.1:c.764C>T | NP_001372810.1:p.Thr255Met | |
| NM_001385882.1:c.800C>T | NP_001372811.1:p.Thr267Met | |
| NM_001385883.1:c.800C>T | NP_001372812.1:p.Thr267Met | |
| NM_001385884.1:c.800C>T | NP_001372813.1:p.Thr267Met | |
| NM_001385885.1:c.704C>T | NP_001372814.1:p.Thr235Met | |
| NM_001385886.1:c.704C>T | NP_001372815.1:p.Thr235Met | |
| NM_001385887.1:c.704C>T | NP_001372816.1:p.Thr235Met | |
| NM_001385888.1:c.704C>T | NP_001372817.1:p.Thr235Met | |
| NM_001385889.1:c.704C>T | NP_001372818.1:p.Thr235Met | |
| NM_001385890.1:c.596C>T | NP_001372819.1:p.Thr199Met | |
| NM_001385891.1:c.596C>T | NP_001372820.1:p.Thr199Met | |
| NM_001385892.1:c.596C>T | NP_001372821.1:p.Thr199Met | |
| NM_001385893.1:c.596C>T | NP_001372822.1:p.Thr199Met | |
| NM_001385894.1:c.596C>T | NP_001372823.1:p.Thr199Met | |
| NM_001385895.1:c.596C>T | NP_001372824.1:p.Thr199Met | |
| NM_001385896.1:c.596C>T | NP_001372825.1:p.Thr199Met | |
| NM_001385897.1:c.596C>T | NP_001372826.1:p.Thr199Met | |
| NM_001385898.1:c.596C>T | NP_001372827.1:p.Thr199Met | |
| NM_001385899.1:c.563C>T | NP_001372828.1:p.Thr188Met | |
| NM_001385900.1:c.563C>T | NP_001372829.1:p.Thr188Met | |
| NM_001385901.1:c.542C>T | NP_001372830.1:p.Thr181Met | |
| NM_001385902.1:c.542C>T | NP_001372831.1:p.Thr181Met | |
| NM_001385903.1:c.563C>T | NP_001372832.1:p.Thr188Met | |
| NM_001385904.1:c.563C>T | NP_001372833.1:p.Thr188Met | |
| NM_001385905.1:c.563C>T | NP_001372834.1:p.Thr188Met | |
| NM_001385906.1:c.542C>T | NP_001372835.1:p.Thr181Met | |
| NM_001385908.1:c.542C>T | NP_001372837.1:p.Thr181Met | |
| NM_001385911.1:c.542C>T | NP_001372840.1:p.Thr181Met | |
| NM_001385915.1:c.506C>T | NP_001372844.1:p.Thr169Met | |
| NM_001385916.1:c.467C>T | NP_001372845.1:p.Thr156Met | |
| NM_001385918.1:c.446C>T | NP_001372847.1:p.Thr149Met | |
| NM_001385919.1:c.167C>T | NP_001372848.1:p.Thr56Met | |
| NR_169794.1:n.970C>T | ||
| NR_169795.1:n.928C>T | ||
| NR_169796.1:n.995C>T | ||
| NR_169797.1:n.761C>T | ||
| NR_169798.1:n.959C>T | ||
| NR_169799.1:n.616C>T | ||
| NR_169800.1:n.651-2572C>T | ||
| NR_169801.1:n.995C>T | ||
| NR_169802.1:n.641C>T | ||
| NR_169803.1:n.970C>T | ||
| NR_169804.1:n.988C>T | ||
| NR_169805.1:n.999C>T | ||
| NR_169806.1:n.984C>T | ||
| NR_169808.1:n.1027C>T | ||
| NR_169809.1:n.924C>T | ||
| NR_169810.1:n.995C>T | ||
| NR_169811.1:n.959C>T |