Linked Data
ClinVar Variation Id:
695179
dbSNP Id:
rs565096937
ExAC:
6:110059539 A / G
gnomAD v2:
6-110059539-A-G
gnomAD v3:
6-109738336-A-G
gnomAD v4:
6-109738336-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.109738336A>G , CM000668.2:g.109738336A>G | GRCh38 |
| NC_000006.11:g.110059539A>G , CM000668.1:g.110059539A>G | GRCh37 |
| NC_000006.10:g.110166232A>G | NCBI36 |
| NG_007977.1:g.52116A>G , LRG_241:g.52116A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000230124.8:c.658A>G MANE Select | ENSP00000230124.4:p.Ile220Val | |
| ENST00000368941.2:c.646+3038A>G | ENSP00000357937.2:n.646+3038A>G | |
| ENST00000415980.2:c.-223-23755A>G | ENSP00000405660.2:n.-223-23755A>G | |
| ENST00000454215.6:c.658A>G | ENSP00000412156.2:p.Ile220Val | |
| ENST00000674532.1:n.3854A>G | ||
| ENST00000674557.1:c.*90A>G | ENSP00000501608.1:n.*90A>G | |
| ENST00000674569.1:c.646+3038A>G | ENSP00000502769.1:n.646+3038A>G | |
| ENST00000674571.1:c.646+3038A>G | ENSP00000501633.1:n.646+3038A>G | |
| ENST00000674575.1:c.640+3038A>G | ENSP00000502276.1:n.640+3038A>G | |
| ENST00000674641.1:c.313A>G | ENSP00000501609.1:p.Ile105Val | |
| ENST00000674644.1:c.-55+3038A>G | ENSP00000502201.1:n.-55+3038A>G | |
| ENST00000674649.1:c.*351A>G | ENSP00000501669.1:n.*351A>G | |
| ENST00000674657.1:c.*90A>G | ENSP00000502314.1:n.*90A>G | |
| ENST00000674744.1:c.652A>G | ENSP00000501661.1:p.Ile218Val | |
| ENST00000674778.1:c.646+3038A>G | ENSP00000502742.1:n.646+3038A>G | |
| ENST00000674783.1:c.658A>G | ENSP00000502755.1:p.Ile220Val | |
| ENST00000674830.1:n.629A>G | ||
| ENST00000674884.1:c.676A>G | ENSP00000502668.1:p.Ile226Val | |
| ENST00000674930.1:c.*164+3038A>G | ENSP00000502657.1:n.*164+3038A>G | |
| ENST00000674933.1:c.427A>G | ENSP00000502376.1:p.Ile143Val | |
| ENST00000674956.1:c.646+3038A>G | ENSP00000501904.1:n.646+3038A>G | |
| ENST00000675002.1:n.746A>G | ||
| ENST00000675004.1:c.*610A>G | ENSP00000501868.1:n.*610A>G | |
| ENST00000675009.1:c.*176A>G | ENSP00000502098.1:n.*176A>G | |
| ENST00000675096.1:c.658A>G | ENSP00000502116.1:p.Ile220Val | |
| ENST00000675122.1:c.658A>G | ENSP00000501810.1:p.Ile220Val | |
| ENST00000675153.1:c.658A>G | ENSP00000501682.1:p.Ile220Val | |
| ENST00000675272.1:n.1564A>G | ||
| ENST00000675284.1:c.658A>G | ENSP00000502758.1:p.Ile220Val | |
| ENST00000675311.1:c.*78+3038A>G | ENSP00000501961.1:n.*78+3038A>G | |
| ENST00000675426.1:c.*78+3038A>G | ENSP00000501819.1:n.*78+3038A>G | |
| ENST00000675523.1:c.427A>G | ENSP00000502384.1:p.Ile143Val | |
| ENST00000675552.1:c.646+3038A>G | ENSP00000502197.1:n.646+3038A>G | |
| ENST00000675681.1:c.658A>G | ENSP00000502705.1:p.Ile220Val | |
| ENST00000675714.1:c.658A>G | ENSP00000502561.1:p.Ile220Val | |
| ENST00000675726.1:c.658A>G | ENSP00000502452.1:p.Ile220Val | |
| ENST00000675772.1:c.658A>G | ENSP00000501678.1:p.Ile220Val | |
| ENST00000675831.1:c.646+3038A>G | ENSP00000502382.1:n.646+3038A>G | |
| ENST00000675844.1:c.427A>G | ENSP00000502353.1:p.Ile143Val | |
| ENST00000675847.1:n.782A>G | ||
| ENST00000675887.1:c.*261A>G | ENSP00000502123.1:n.*261A>G | |
| ENST00000675973.1:c.646+3038A>G | ENSP00000502407.1:n.646+3038A>G | |
| ENST00000675991.1:c.646+3038A>G | ENSP00000502162.1:n.646+3038A>G | |
| ENST00000675994.1:c.646+3038A>G | ENSP00000502419.1:n.646+3038A>G | |
| ENST00000676021.1:c.658A>G | ENSP00000502746.1:p.Ile220Val | |
| ENST00000676037.1:c.658A>G | ENSP00000502181.1:p.Ile220Val | |
| ENST00000676136.1:n.798A>G | ||
| ENST00000676435.1:c.658A>G | ENSP00000502614.1:p.Ile220Val | |
| ENST00000676442.1:c.646+3038A>G | ENSP00000502595.1:n.646+3038A>G | |
| ENST00000230124.7:c.658A>G | ENSP00000230124.3:p.Ile220Val | |
| ENST00000368941.1:c.415+3038A>G | ENSP00000357937.1:n.415+3038A>G | |
| ENST00000454215.5:c.595A>G | ENSP00000412156.1:p.Ile199Val | |
| NM_014845.5:c.658A>G , LRG_241t1:c.658A>G | NP_055660.1:p.Ile220Val | |
| XM_011536281.1:c.595A>G | XP_011534583.1:p.Ile199Val | |
| XM_011536281.3:c.595A>G | XP_011534583.1:p.Ile199Val | |
| XM_017011591.2:c.658A>G | XP_016867080.1:p.Ile220Val | |
| XM_017011592.1:c.109A>G | XP_016867081.1:p.Ile37Val | |
| XM_017011593.2:c.-55+3038A>G | XP_016867082.1:n.-55+3038A>G | |
| NM_014845.6:c.658A>G MANE Select | NP_055660.1:p.Ile220Val |