Linked Data
ClinVar Variation Id:
263536
dbSNP Id:
rs747654057
ExAC:
2:179494077 A / T
gnomAD v2:
2-179494077-A-T
gnomAD v3:
2-178629350-A-T
gnomAD v4:
2-178629350-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178629350A>T , CM000664.2:g.178629350A>T | GRCh38 |
| NC_000002.11:g.179494077A>T , CM000664.1:g.179494077A>T | GRCh37 |
| NC_000002.10:g.179202322A>T | NCBI36 |
| NG_011618.3:g.206453T>A , LRG_391:g.206453T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.36671T>A | ENSP00000343764.6:p.Ile12224Asn | |
| ENST00000342175.11:c.17756T>A | ENSP00000340554.6:p.Ile5919Asn | |
| ENST00000359218.10:c.17555T>A | ENSP00000352154.5:p.Ile5852Asn | |
| ENST00000342175.10:c.17756T>A | ENSP00000340554.6:p.Ile5919Asn | |
| ENST00000342992.10:c.36671T>A | ENSP00000343764.6:p.Ile12224Asn | |
| ENST00000359218.9:c.17555T>A | ENSP00000352154.5:p.Ile5852Asn | |
| ENST00000460472.6:c.17180T>A | ENSP00000434586.1:p.Ile5727Asn | |
| ENST00000589042.5:c.44375T>A MANE Select | ENSP00000467141.1:p.Ile14792Asn | |
| ENST00000591111.5:c.39452T>A | ENSP00000465570.1:p.Ile13151Asn | |
| ENST00000615779.4:c.39452T>A | ENSP00000483597.1:p.Ile13151Asn | |
| NM_001256850.1:c.39452T>A | NP_001243779.1:p.Ile13151Asn | |
| NM_001267550.2:c.44375T>A MANE Select | NP_001254479.2:p.Ile14792Asn | |
| NM_003319.4:c.17180T>A | NP_003310.4:p.Ile5727Asn | |
| NM_133378.4:c.36671T>A | NP_596869.4:p.Ile12224Asn | |
| NM_133432.3:c.17555T>A | NP_597676.3:p.Ile5852Asn | |
| NM_133437.4:c.17756T>A | NP_597681.4:p.Ile5919Asn | |
| XM_011511729.1:c.43472T>A | XP_011510031.1:p.Ile14491Asn | |
| XM_011511730.1:c.17366T>A | XP_011510032.1:p.Ile5789Asn | |
| XM_011511731.1:c.17225T>A | XP_011510033.1:p.Ile5742Asn | |
| XM_017004819.1:c.43268T>A | XP_016860308.1:p.Ile14423Asn | |
| XM_017004820.1:c.38666T>A | XP_016860309.1:p.Ile12889Asn | |
| XM_017004821.1:c.38663T>A | XP_016860310.1:p.Ile12888Asn | |
| XM_017004822.1:c.35705T>A | XP_016860311.1:p.Ile11902Asn | |
| XM_017004823.1:c.17321T>A | XP_016860312.1:p.Ile5774Asn | |
| XM_024453094.1:c.38816T>A | XP_024308862.1:p.Ile12939Asn | |
| XM_024453095.1:c.38813T>A | XP_024308863.1:p.Ile12938Asn | |
| XM_024453096.1:c.38246T>A | XP_024308864.1:p.Ile12749Asn | |
| XM_024453097.1:c.35588T>A | XP_024308865.1:p.Ile11863Asn | |
| XM_024453098.1:c.35507T>A | XP_024308866.1:p.Ile11836Asn | |
| XM_024453099.1:c.17270T>A | XP_024308867.1:p.Ile5757Asn | |
| XM_024453100.1:c.7124T>A | XP_024308868.1:p.Ile2375Asn |