Linked Data
ClinVar Variation Id:
535493
dbSNP Id:
rs1190002260
gnomAD v2:
2-179505279-T-A
gnomAD v4:
2-178640552-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178640552T>A , CM000664.2:g.178640552T>A | GRCh38 |
| NC_000002.11:g.179505279T>A , CM000664.1:g.179505279T>A | GRCh37 |
| NC_000002.10:g.179213524T>A | NCBI36 |
| NG_011618.3:g.195251A>T , LRG_391:g.195251A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.33008A>T | ENSP00000343764.6:p.Glu11003Val | |
| ENST00000342175.11:c.14093A>T | ENSP00000340554.6:p.Glu4698Val | |
| ENST00000359218.10:c.13892A>T | ENSP00000352154.5:p.Glu4631Val | |
| ENST00000342175.10:c.14093A>T | ENSP00000340554.6:p.Glu4698Val | |
| ENST00000342992.10:c.33008A>T | ENSP00000343764.6:p.Glu11003Val | |
| ENST00000359218.9:c.13892A>T | ENSP00000352154.5:p.Glu4631Val | |
| ENST00000414766.5:c.2675A>T | ENSP00000401501.1:p.Glu892Val | |
| ENST00000426232.5:c.675A>T | ||
| ENST00000446966.1:c.1073A>T | ENSP00000408004.1:p.Glu358Val | |
| ENST00000460472.6:c.13517A>T | ENSP00000434586.1:p.Glu4506Val | |
| ENST00000589042.5:c.40712A>T MANE Select | ENSP00000467141.1:p.Glu13571Val | |
| ENST00000591111.5:c.35789A>T | ENSP00000465570.1:p.Glu11930Val | |
| ENST00000615779.4:c.35789A>T | ENSP00000483597.1:p.Glu11930Val | |
| NM_001256850.1:c.35789A>T | NP_001243779.1:p.Glu11930Val | |
| NM_001267550.2:c.40712A>T MANE Select | NP_001254479.2:p.Glu13571Val | |
| NM_003319.4:c.13517A>T | NP_003310.4:p.Glu4506Val | |
| NM_133378.4:c.33008A>T | NP_596869.4:p.Glu11003Val | |
| NM_133432.3:c.13892A>T | NP_597676.3:p.Glu4631Val | |
| NM_133437.4:c.14093A>T | NP_597681.4:p.Glu4698Val | |
| XM_011511729.1:c.39809A>T | XP_011510031.1:p.Glu13270Val | |
| XM_011511730.1:c.13703A>T | XP_011510032.1:p.Glu4568Val | |
| XM_011511731.1:c.13562A>T | XP_011510033.1:p.Glu4521Val | |
| XM_017004819.1:c.39605A>T | XP_016860308.1:p.Glu13202Val | |
| XM_017004820.1:c.35003A>T | XP_016860309.1:p.Glu11668Val | |
| XM_017004821.1:c.35000A>T | XP_016860310.1:p.Glu11667Val | |
| XM_017004822.1:c.32093A>T | XP_016860311.1:p.Glu10698Val | |
| XM_017004823.1:c.13658A>T | XP_016860312.1:p.Glu4553Val | |
| XM_024453094.1:c.35153A>T | XP_024308862.1:p.Glu11718Val | |
| XM_024453095.1:c.35150A>T | XP_024308863.1:p.Glu11717Val | |
| XM_024453096.1:c.34583A>T | XP_024308864.1:p.Glu11528Val | |
| XM_024453097.1:c.31925A>T | XP_024308865.1:p.Glu10642Val | |
| XM_024453098.1:c.31844A>T | XP_024308866.1:p.Glu10615Val | |
| XM_024453099.1:c.13658A>T | XP_024308867.1:p.Glu4553Val | |
| XM_024453100.1:c.3461A>T | XP_024308868.1:p.Glu1154Val |