Linked Data
ClinVar Variation Id:
156015
dbSNP Id:
rs587777714
ExAC:
6:110064340 G / A
gnomAD v2:
6-110064340-G-A
gnomAD v3:
6-109743137-G-A
gnomAD v4:
6-109743137-G-A
PubMed:
PMID:21705420
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.109743137G>A , CM000668.2:g.109743137G>A | GRCh38 |
| NC_000006.11:g.110064340G>A , CM000668.1:g.110064340G>A | GRCh37 |
| NC_000006.10:g.110171033G>A | NCBI36 |
| NG_007977.1:g.56917G>A , LRG_241:g.56917G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000230124.8:c.904G>A MANE Select | ENSP00000230124.4:p.Glu302Lys | |
| ENST00000368941.2:c.*23G>A | ENSP00000357937.2:n.*23G>A | |
| ENST00000415980.2:c.-223-18954G>A | ENSP00000405660.2:n.-223-18954G>A | |
| ENST00000454215.6:c.880G>A | ENSP00000412156.2:p.Glu294Lys | |
| ENST00000674532.1:n.4100G>A | ||
| ENST00000674557.1:c.*336G>A | ENSP00000501608.1:n.*336G>A | |
| ENST00000674569.1:c.*23G>A | ENSP00000502769.1:n.*23G>A | |
| ENST00000674571.1:c.*23G>A | ENSP00000501633.1:n.*23G>A | |
| ENST00000674575.1:c.*23G>A | ENSP00000502276.1:n.*23G>A | |
| ENST00000674641.1:c.559G>A | ENSP00000501609.1:p.Glu187Lys | |
| ENST00000674644.1:c.-27G>A | ENSP00000502201.1:n.-27G>A | |
| ENST00000674649.1:c.*597G>A | ENSP00000501669.1:n.*597G>A | |
| ENST00000674657.1:c.*336G>A | ENSP00000502314.1:n.*336G>A | |
| ENST00000674744.1:c.898G>A | ENSP00000501661.1:p.Glu300Lys | |
| ENST00000674778.1:c.*23G>A | ENSP00000502742.1:n.*23G>A | |
| ENST00000674783.1:c.904G>A | ENSP00000502755.1:p.Glu302Lys | |
| ENST00000674830.1:n.875G>A | ||
| ENST00000674884.1:c.922G>A | ENSP00000502668.1:p.Glu308Lys | |
| ENST00000674930.1:c.*165-538G>A | ENSP00000502657.1:n.*165-538G>A | |
| ENST00000674933.1:c.673G>A | ENSP00000502376.1:p.Glu225Lys | |
| ENST00000674956.1:c.*23G>A | ENSP00000501904.1:n.*23G>A | |
| ENST00000675004.1:c.*856G>A | ENSP00000501868.1:n.*856G>A | |
| ENST00000675009.1:c.*422G>A | ENSP00000502098.1:n.*422G>A | |
| ENST00000675096.1:c.904G>A | ENSP00000502116.1:p.Glu302Lys | |
| ENST00000675122.1:c.904G>A | ENSP00000501810.1:p.Glu302Lys | |
| ENST00000675153.1:c.904G>A | ENSP00000501682.1:p.Glu302Lys | |
| ENST00000675272.1:n.4800G>A | ||
| ENST00000675284.1:c.904G>A | ENSP00000502758.1:p.Glu302Lys | |
| ENST00000675311.1:c.*106G>A | ENSP00000501961.1:n.*106G>A | |
| ENST00000675426.1:c.*106G>A | ENSP00000501819.1:n.*106G>A | |
| ENST00000675523.1:c.673G>A | ENSP00000502384.1:p.Glu225Lys | |
| ENST00000675552.1:c.*23G>A | ENSP00000502197.1:n.*23G>A | |
| ENST00000675681.1:c.904G>A | ENSP00000502705.1:p.Glu302Lys | |
| ENST00000675714.1:c.904G>A | ENSP00000502561.1:p.Glu302Lys | |
| ENST00000675726.1:c.904G>A | ENSP00000502452.1:p.Glu302Lys | |
| ENST00000675772.1:c.904G>A | ENSP00000501678.1:p.Glu302Lys | |
| ENST00000675831.1:c.647-538G>A | ENSP00000502382.1:n.647-538G>A | |
| ENST00000675847.1:n.1028G>A | ||
| ENST00000675887.1:c.*507G>A | ENSP00000502123.1:n.*507G>A | |
| ENST00000675973.1:c.775G>A | ENSP00000502407.1:p.Glu259Lys | |
| ENST00000675991.1:c.*23G>A | ENSP00000502162.1:n.*23G>A | |
| ENST00000675994.1:c.*23G>A | ENSP00000502419.1:n.*23G>A | |
| ENST00000676021.1:c.904G>A | ENSP00000502746.1:p.Glu302Lys | |
| ENST00000676037.1:c.904G>A | ENSP00000502181.1:p.Glu302Lys | |
| ENST00000676136.1:n.1044G>A | ||
| ENST00000676435.1:c.904G>A | ENSP00000502614.1:p.Glu302Lys | |
| ENST00000676442.1:c.775G>A | ENSP00000502595.1:p.Glu259Lys | |
| ENST00000230124.7:c.904G>A | ENSP00000230124.3:p.Glu302Lys | |
| ENST00000368941.1:c.*23G>A | ENSP00000357937.1:n.*23G>A | |
| NM_014845.5:c.904G>A , LRG_241t1:c.904G>A | NP_055660.1:p.Glu302Lys | |
| XM_011536281.1:c.841G>A | XP_011534583.1:p.Glu281Lys | |
| XM_011536281.3:c.841G>A | XP_011534583.1:p.Glu281Lys | |
| XM_017011591.2:c.904G>A | XP_016867080.1:p.Glu302Lys | |
| XM_017011592.1:c.355G>A | XP_016867081.1:p.Glu119Lys | |
| XM_017011593.2:c.-27G>A | XP_016867082.1:n.-27G>A | |
| NM_014845.6:c.904G>A MANE Select | NP_055660.1:p.Glu302Lys |