Linked Data
ClinVar Variation Id:
1723
dbSNP Id:
rs121908288
ExAC:
6:110056402 C / T
gnomAD v2:
6-110056402-C-T
gnomAD v3:
6-109735199-C-T
gnomAD v4:
6-109735199-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.109735199C>T , CM000668.2:g.109735199C>T | GRCh38 |
| NC_000006.11:g.110056402C>T , CM000668.1:g.110056402C>T | GRCh37 |
| NC_000006.10:g.110163095C>T | NCBI36 |
| NG_007977.1:g.48979C>T , LRG_241:g.48979C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000230124.8:c.547C>T MANE Select | ENSP00000230124.4:p.Arg183Ter | |
| ENST00000368941.2:c.547C>T | ENSP00000357937.2:p.Arg183Ter | |
| ENST00000415980.2:c.-223-26892C>T | ENSP00000405660.2:n.-223-26892C>T | |
| ENST00000454215.6:c.547C>T | ENSP00000412156.2:p.Arg183Ter | |
| ENST00000674532.1:n.717C>T | ||
| ENST00000674557.1:c.390C>T | ENSP00000501608.1:p.Cys130= | |
| ENST00000674569.1:c.547C>T | ENSP00000502769.1:p.Arg183Ter | |
| ENST00000674571.1:c.547C>T | ENSP00000501633.1:p.Arg183Ter | |
| ENST00000674575.1:c.541C>T | ENSP00000502276.1:p.Arg181Ter | |
| ENST00000674614.1:n.514C>T | ||
| ENST00000674641.1:c.202C>T | ENSP00000501609.1:p.Arg68Ter | |
| ENST00000674644.1:c.-154C>T | ENSP00000502201.1:n.-154C>T | |
| ENST00000674649.1:c.*240C>T | ENSP00000501669.1:n.*240C>T | |
| ENST00000674657.1:c.390C>T | ENSP00000502314.1:p.Cys130= | |
| ENST00000674744.1:c.541C>T | ENSP00000501661.1:p.Arg181Ter | |
| ENST00000674778.1:c.547C>T | ENSP00000502742.1:p.Arg183Ter | |
| ENST00000674783.1:c.547C>T | ENSP00000502755.1:p.Arg183Ter | |
| ENST00000674830.1:n.518C>T | ||
| ENST00000674884.1:c.565C>T | ENSP00000502668.1:p.Arg189Ter | |
| ENST00000674930.1:c.*65C>T | ENSP00000502657.1:n.*65C>T | |
| ENST00000674933.1:c.316C>T | ENSP00000502376.1:p.Arg106Ter | |
| ENST00000674956.1:c.547C>T | ENSP00000501904.1:p.Arg183Ter | |
| ENST00000675002.1:n.635C>T | ||
| ENST00000675004.1:c.*499C>T | ENSP00000501868.1:n.*499C>T | |
| ENST00000675009.1:c.*65C>T | ENSP00000502098.1:n.*65C>T | |
| ENST00000675096.1:c.547C>T | ENSP00000502116.1:p.Arg183Ter | |
| ENST00000675122.1:c.547C>T | ENSP00000501810.1:p.Arg183Ter | |
| ENST00000675153.1:c.547C>T | ENSP00000501682.1:p.Arg183Ter | |
| ENST00000675284.1:c.547C>T | ENSP00000502758.1:p.Arg183Ter | |
| ENST00000675311.1:c.390C>T | ENSP00000501961.1:p.Cys130= | |
| ENST00000675426.1:c.390C>T | ENSP00000501819.1:p.Cys130= | |
| ENST00000675523.1:c.316C>T | ENSP00000502384.1:p.Arg106Ter | |
| ENST00000675552.1:c.547C>T | ENSP00000502197.1:p.Arg183Ter | |
| ENST00000675681.1:c.547C>T | ENSP00000502705.1:p.Arg183Ter | |
| ENST00000675714.1:c.547C>T | ENSP00000502561.1:p.Arg183Ter | |
| ENST00000675726.1:c.547C>T | ENSP00000502452.1:p.Arg183Ter | |
| ENST00000675772.1:c.547C>T | ENSP00000501678.1:p.Arg183Ter | |
| ENST00000675831.1:c.547C>T | ENSP00000502382.1:p.Arg183Ter | |
| ENST00000675834.1:n.385C>T | ||
| ENST00000675844.1:c.316C>T | ENSP00000502353.1:p.Arg106Ter | |
| ENST00000675847.1:n.671C>T | ||
| ENST00000675887.1:c.*150C>T | ENSP00000502123.1:n.*150C>T | |
| ENST00000675973.1:c.547C>T | ENSP00000502407.1:p.Arg183Ter | |
| ENST00000675991.1:c.547C>T | ENSP00000502162.1:p.Arg183Ter | |
| ENST00000675994.1:c.547C>T | ENSP00000502419.1:p.Arg183Ter | |
| ENST00000676021.1:c.547C>T | ENSP00000502746.1:p.Arg183Ter | |
| ENST00000676037.1:c.547C>T | ENSP00000502181.1:p.Arg183Ter | |
| ENST00000676136.1:n.687C>T | ||
| ENST00000676435.1:c.547C>T | ENSP00000502614.1:p.Arg183Ter | |
| ENST00000676442.1:c.547C>T | ENSP00000502595.1:p.Arg183Ter | |
| ENST00000230124.7:c.547C>T | ENSP00000230124.3:p.Arg183Ter | |
| ENST00000368941.1:c.316C>T | ENSP00000357937.1:p.Arg106Ter | |
| ENST00000454215.5:c.484C>T | ENSP00000412156.1:p.Arg162Ter | |
| NM_014845.5:c.547C>T , LRG_241t1:c.547C>T | NP_055660.1:p.Arg183Ter | |
| XM_011536281.1:c.484C>T | XP_011534583.1:p.Arg162Ter | |
| XM_011536281.3:c.484C>T | XP_011534583.1:p.Arg162Ter | |
| XM_017011591.2:c.547C>T | XP_016867080.1:p.Arg183Ter | |
| XM_017011592.1:c.-3C>T | XP_016867081.1:n.-3C>T | |
| XM_017011593.2:c.-154C>T | XP_016867082.1:n.-154C>T | |
| NM_014845.6:c.547C>T MANE Select | NP_055660.1:p.Arg183Ter |