Linked Data
ClinVar Variation Id:
2466
dbSNP Id:
rs119450944
gnomAD v2:
22-40756440-A-G
gnomAD v3:
22-40360436-A-G
gnomAD v4:
22-40360436-A-G
PubMed:
PMID:10090474
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.40360436A>G , CM000684.2:g.40360436A>G | GRCh38 |
| NC_000022.10:g.40756440A>G , CM000684.1:g.40756440A>G | GRCh37 |
| NC_000022.9:g.39086386A>G | NCBI36 |
| NG_007993.1:g.18937A>G | |
| NG_007993.2:g.18937A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000480775.3:c.736A>G | ENSP00000485462.2:p.Lys246Glu | |
| ENST00000623287.4:c.*161A>G | ENSP00000485437.1:n.*161A>G | |
| ENST00000623632.4:c.736A>G | ENSP00000485288.2:p.Lys246Glu | |
| ENST00000625194.4:c.736A>G | ENSP00000485289.2:p.Lys246Glu | |
| ENST00000636265.1:c.736A>G | ENSP00000490909.1:p.Lys246Glu | |
| ENST00000636433.1:n.758A>G | ||
| ENST00000636714.1:c.736A>G | ENSP00000490946.1:p.Lys246Glu | |
| ENST00000637666.2:c.736A>G | ENSP00000489696.2:p.Lys246Glu | |
| ENST00000637669.1:c.736A>G | ENSP00000489728.1:p.Lys246Glu | |
| ENST00000639722.1:c.*432A>G | ENSP00000492828.1:n.*432A>G | |
| ENST00000674592.1:n.760A>G | ||
| ENST00000675622.1:n.3803A>G | ||
| ENST00000679609.1:c.*161A>G | ENSP00000506592.1:n.*161A>G | |
| ENST00000679656.1:n.641A>G | ||
| ENST00000679723.1:c.691A>G | ENSP00000505155.1:p.Lys231Glu | |
| ENST00000679845.1:n.859A>G | ||
| ENST00000679904.1:n.947A>G | ||
| ENST00000680378.1:c.823A>G | ENSP00000505556.1:p.Lys275Glu | |
| ENST00000680444.1:c.736A>G | ENSP00000505298.1:p.Lys246Glu | |
| ENST00000680978.1:c.736A>G | ENSP00000505244.1:p.Lys246Glu | |
| ENST00000681003.1:n.168A>G | ||
| ENST00000681159.1:n.795A>G | ||
| ENST00000216194.11:c.778A>G | ENSP00000216194.8:p.Lys260Glu | |
| ENST00000342312.9:c.736A>G | ENSP00000341429.6:p.Lys246Glu | |
| ENST00000480775.2:c.150A>G | ||
| ENST00000623063.3:c.736A>G MANE Select | ENSP00000485525.1:p.Lys246Glu | |
| ENST00000623287.3:c.*161A>G | ENSP00000485437.1:n.*161A>G | |
| ENST00000623632.3:c.691A>G | ENSP00000485288.1:p.Lys231Glu | |
| ENST00000623978.3:c.196A>G | ENSP00000485477.1:p.Lys66Glu | |
| ENST00000625194.3:c.323A>G | ||
| NM_000026.2:c.736A>G | NP_000017.1:p.Lys246Glu | |
| NM_001123378.1:c.736A>G | NP_001116850.1:p.Lys246Glu | |
| XM_011529976.1:c.736A>G | XP_011528278.1:p.Lys246Glu | |
| XM_011529977.1:c.736A>G | XP_011528279.1:p.Lys246Glu | |
| XM_011529978.1:c.736A>G | XP_011528280.1:p.Lys246Glu | |
| XM_011529979.1:c.736A>G | XP_011528281.1:p.Lys246Glu | |
| XM_011529980.1:c.736A>G | XP_011528282.1:p.Lys246Glu | |
| XM_011529981.1:c.271A>G | XP_011528283.1:p.Lys91Glu | |
| XM_011529982.1:c.-281A>G | XP_011528284.1:n.-281A>G | |
| XR_937824.1:n.795A>G | ||
| XR_937825.1:n.795A>G | ||
| XR_937826.1:n.795A>G | ||
| NM_000026.3:c.736A>G | NP_000017.1:p.Lys246Glu | |
| NM_001123378.2:c.736A>G | NP_001116850.1:p.Lys246Glu | |
| NM_001317923.1:c.544A>G | NP_001304852.1:p.Lys182Glu | |
| NM_001363840.1:c.736A>G | NP_001350769.1:p.Lys246Glu | |
| NR_134256.1:n.795A>G | ||
| XM_011529977.3:c.736A>G | XP_011528279.1:p.Lys246Glu | |
| XM_011529980.3:c.736A>G | XP_011528282.1:p.Lys246Glu | |
| XM_017028636.1:c.691A>G | XP_016884125.1:p.Lys231Glu | |
| XM_017028637.1:c.691A>G | XP_016884126.1:p.Lys231Glu | |
| XM_017028638.1:c.271A>G | XP_016884127.1:p.Lys91Glu | |
| XM_017028639.2:c.271A>G | XP_016884128.1:p.Lys91Glu | |
| XM_017028640.1:c.-281A>G | XP_016884129.1:n.-281A>G | |
| XM_024452166.1:c.691A>G | XP_024307934.1:p.Lys231Glu | |
| XR_001755176.2:n.793A>G | ||
| XR_002958670.1:n.732A>G | ||
| XR_002958671.1:n.793A>G | ||
| XR_937825.3:n.793A>G | ||
| NM_000026.4:c.736A>G MANE Select | NP_000017.1:p.Lys246Glu | |
| NM_001363840.2:c.736A>G | NP_001350769.1:p.Lys246Glu | |
| NM_001123378.3:c.736A>G | NP_001116850.1:p.Lys246Glu | |
| NM_001317923.2:c.544A>G | NP_001304852.1:p.Lys182Glu | |
| NM_001363840.3:c.736A>G | NP_001350769.1:p.Lys246Glu | |
| NR_134256.2:n.795A>G |