Linked Data
ClinVar Variation Id:
217228
dbSNP Id:
rs377357931
ExAC:
6:110081456 C / T
gnomAD v2:
6-110081456-C-T
gnomAD v3:
6-109760253-C-T
gnomAD v4:
6-109760253-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.109760253C>T , CM000668.2:g.109760253C>T | GRCh38 |
| NC_000006.11:g.110081456C>T , CM000668.1:g.110081456C>T | GRCh37 |
| NC_000006.10:g.110188149C>T | NCBI36 |
| NG_007977.1:g.74033C>T , LRG_241:g.74033C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000230124.8:c.1141C>T MANE Select | ENSP00000230124.4:p.Arg381Ter | |
| ENST00000415980.2:c.-223-1838C>T | ENSP00000405660.2:n.-223-1838C>T | |
| ENST00000674532.1:n.4337C>T | ||
| ENST00000674557.1:c.*573C>T | ENSP00000501608.1:n.*573C>T | |
| ENST00000674569.1:c.*260C>T | ENSP00000502769.1:n.*260C>T | |
| ENST00000674571.1:c.*260C>T | ENSP00000501633.1:n.*260C>T | |
| ENST00000674575.1:c.*260C>T | ENSP00000502276.1:n.*260C>T | |
| ENST00000674641.1:c.796C>T | ENSP00000501609.1:p.Arg266Ter | |
| ENST00000674644.1:c.211C>T | ENSP00000502201.1:p.Arg71Ter | |
| ENST00000674649.1:c.*834C>T | ENSP00000501669.1:n.*834C>T | |
| ENST00000674657.1:c.*573C>T | ENSP00000502314.1:n.*573C>T | |
| ENST00000674744.1:c.1135C>T | ENSP00000501661.1:p.Arg379Ter | |
| ENST00000674778.1:c.*260C>T | ENSP00000502742.1:n.*260C>T | |
| ENST00000674783.1:c.*56C>T | ENSP00000502755.1:n.*56C>T | |
| ENST00000674830.1:n.1112C>T | ||
| ENST00000674884.1:c.1159C>T | ENSP00000502668.1:p.Arg387Ter | |
| ENST00000674930.1:c.*266C>T | ENSP00000502657.1:n.*266C>T | |
| ENST00000674933.1:c.910C>T | ENSP00000502376.1:p.Arg304Ter | |
| ENST00000674956.1:c.*355C>T | ENSP00000501904.1:n.*355C>T | |
| ENST00000675004.1:c.*1093C>T | ENSP00000501868.1:n.*1093C>T | |
| ENST00000675009.1:c.*656-1838C>T | ENSP00000502098.1:n.*656-1838C>T | |
| ENST00000675096.1:c.1141C>T | ENSP00000502116.1:p.Arg381Ter | |
| ENST00000675122.1:c.1141C>T | ENSP00000501810.1:p.Arg381Ter | |
| ENST00000675153.1:c.1138-1838C>T | ENSP00000501682.1:n.1138-1838C>T | |
| ENST00000675272.1:n.5439C>T | ||
| ENST00000675284.1:c.1141C>T | ENSP00000502758.1:p.Arg381Ter | |
| ENST00000675311.1:c.*343C>T | ENSP00000501961.1:n.*343C>T | |
| ENST00000675426.1:c.*340-1838C>T | ENSP00000501819.1:n.*340-1838C>T | |
| ENST00000675516.1:n.372C>T | ||
| ENST00000675523.1:c.910C>T | ENSP00000502384.1:p.Arg304Ter | |
| ENST00000675552.1:c.*260C>T | ENSP00000502197.1:n.*260C>T | |
| ENST00000675681.1:c.1141C>T | ENSP00000502705.1:p.Arg381Ter | |
| ENST00000675714.1:c.1141C>T | ENSP00000502561.1:p.Arg381Ter | |
| ENST00000675726.1:c.1141C>T | ENSP00000502452.1:p.Arg381Ter | |
| ENST00000675772.1:c.1141C>T | ENSP00000501678.1:p.Arg381Ter | |
| ENST00000675831.1:c.748C>T | ENSP00000502382.1:p.Arg250Ter | |
| ENST00000675847.1:n.1265C>T | ||
| ENST00000675887.1:c.*744C>T | ENSP00000502123.1:n.*744C>T | |
| ENST00000675973.1:c.1012C>T | ENSP00000502407.1:p.Arg338Ter | |
| ENST00000675991.1:c.*260C>T | ENSP00000502162.1:n.*260C>T | |
| ENST00000675994.1:c.*260C>T | ENSP00000502419.1:n.*260C>T | |
| ENST00000676021.1:c.1138-1838C>T | ENSP00000502746.1:n.1138-1838C>T | |
| ENST00000676037.1:c.1141C>T | ENSP00000502181.1:p.Arg381Ter | |
| ENST00000676136.1:n.1281C>T | ||
| ENST00000676442.1:c.1012C>T | ENSP00000502595.1:p.Arg338Ter | |
| ENST00000230124.7:c.1141C>T | ENSP00000230124.3:p.Arg381Ter | |
| NM_014845.5:c.1141C>T , LRG_241t1:c.1141C>T | NP_055660.1:p.Arg381Ter | |
| XM_011536281.1:c.1078C>T | XP_011534583.1:p.Arg360Ter | |
| XM_011536281.3:c.1078C>T | XP_011534583.1:p.Arg360Ter | |
| XM_017011591.2:c.1141C>T | XP_016867080.1:p.Arg381Ter | |
| XM_017011592.1:c.592C>T | XP_016867081.1:p.Arg198Ter | |
| XM_017011593.2:c.211C>T | XP_016867082.1:p.Arg71Ter | |
| NM_014845.6:c.1141C>T MANE Select | NP_055660.1:p.Arg381Ter |