Linked Data
ClinVar Variation Id:
373058
dbSNP Id:
rs774799167
ExAC:
6:110112610 C / T
gnomAD v2:
6-110112610-C-T
gnomAD v4:
6-109791407-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.109791407C>T , CM000668.2:g.109791407C>T | GRCh38 |
| NC_000006.11:g.110112610C>T , CM000668.1:g.110112610C>T | GRCh37 |
| NC_000006.10:g.110219303C>T | NCBI36 |
| NG_007977.1:g.105187C>T , LRG_241:g.105187C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000230124.8:c.2212C>T MANE Select | ENSP00000230124.4:p.Gln738Ter | |
| ENST00000415980.2:c.718C>T | ENSP00000405660.2:p.Gln240Ter | |
| ENST00000419951.2:n.560C>T | ||
| ENST00000674532.1:n.5408C>T | ||
| ENST00000674557.1:c.*1505C>T | ENSP00000501608.1:n.*1505C>T | |
| ENST00000674569.1:c.*1331C>T | ENSP00000502769.1:n.*1331C>T | |
| ENST00000674571.1:c.*1331C>T | ENSP00000501633.1:n.*1331C>T | |
| ENST00000674575.1:c.*1331C>T | ENSP00000502276.1:n.*1331C>T | |
| ENST00000674641.1:c.1867C>T | ENSP00000501609.1:p.Gln623Ter | |
| ENST00000674644.1:c.1282C>T | ENSP00000502201.1:p.Gln428Ter | |
| ENST00000674649.1:c.*1905C>T | ENSP00000501669.1:n.*1905C>T | |
| ENST00000674657.1:c.*1644C>T | ENSP00000502314.1:n.*1644C>T | |
| ENST00000674744.1:c.2206C>T | ENSP00000501661.1:p.Gln736Ter | |
| ENST00000674778.1:c.*1430C>T | ENSP00000502742.1:n.*1430C>T | |
| ENST00000674783.1:c.*1127C>T | ENSP00000502755.1:n.*1127C>T | |
| ENST00000674884.1:c.2230C>T | ENSP00000502668.1:p.Gln744Ter | |
| ENST00000674930.1:c.*1337C>T | ENSP00000502657.1:n.*1337C>T | |
| ENST00000674933.1:c.1981C>T | ENSP00000502376.1:p.Gln661Ter | |
| ENST00000674956.1:c.*1426C>T | ENSP00000501904.1:n.*1426C>T | |
| ENST00000675004.1:c.*2164C>T | ENSP00000501868.1:n.*2164C>T | |
| ENST00000675009.1:c.*1596C>T | ENSP00000502098.1:n.*1596C>T | |
| ENST00000675096.1:c.2005C>T | ENSP00000502116.1:p.Gln669Ter | |
| ENST00000675122.1:c.*319C>T | ENSP00000501810.1:n.*319C>T | |
| ENST00000675153.1:c.*929C>T | ENSP00000501682.1:n.*929C>T | |
| ENST00000675254.1:n.2661C>T | ||
| ENST00000675272.1:n.6510C>T | ||
| ENST00000675284.1:c.2212C>T | ENSP00000502758.1:p.Gln738Ter | |
| ENST00000675301.1:n.869C>T | ||
| ENST00000675311.1:c.*1414C>T | ENSP00000501961.1:n.*1414C>T | |
| ENST00000675426.1:c.*1280C>T | ENSP00000501819.1:n.*1280C>T | |
| ENST00000675523.1:c.1981C>T | ENSP00000502384.1:p.Gln661Ter | |
| ENST00000675552.1:c.*4475C>T | ENSP00000502197.1:n.*4475C>T | |
| ENST00000675714.1:c.2212C>T | ENSP00000502561.1:p.Gln738Ter | |
| ENST00000675726.1:c.2212C>T | ENSP00000502452.1:p.Gln738Ter | |
| ENST00000675772.1:c.2212C>T | ENSP00000501678.1:p.Gln738Ter | |
| ENST00000675831.1:c.1819C>T | ENSP00000502382.1:p.Gln607Ter | |
| ENST00000675849.1:n.1834C>T | ||
| ENST00000675879.1:c.1057C>T | ||
| ENST00000675887.1:c.*1815C>T | ENSP00000502123.1:n.*1815C>T | |
| ENST00000675954.1:n.3545C>T | ||
| ENST00000675991.1:c.*3029C>T | ENSP00000502162.1:n.*3029C>T | |
| ENST00000675994.1:c.*1351C>T | ENSP00000502419.1:n.*1351C>T | |
| ENST00000676021.1:c.*790C>T | ENSP00000502746.1:n.*790C>T | |
| ENST00000676037.1:c.*139C>T | ENSP00000502181.1:n.*139C>T | |
| ENST00000676136.1:n.4859C>T | ||
| ENST00000676246.1:n.102C>T | ||
| ENST00000676442.1:c.2083C>T | ENSP00000502595.1:p.Gln695Ter | |
| ENST00000230124.7:c.2212C>T | ENSP00000230124.3:p.Gln738Ter | |
| ENST00000419951.1:c.133C>T | ENSP00000396566.1:p.Gln45Ter | |
| NM_014845.5:c.2212C>T , LRG_241t1:c.2212C>T | NP_055660.1:p.Gln738Ter | |
| XM_011536281.1:c.2149C>T | XP_011534583.1:p.Gln717Ter | |
| XM_011536281.3:c.2149C>T | XP_011534583.1:p.Gln717Ter | |
| XM_017011592.1:c.1663C>T | XP_016867081.1:p.Gln555Ter | |
| XM_017011593.2:c.1282C>T | XP_016867082.1:p.Gln428Ter | |
| NM_014845.6:c.2212C>T MANE Select | NP_055660.1:p.Gln738Ter |