Linked Data
ClinVar Variation Id:
202641
ClinVar RCV Id:
RCV000260782
RCV000359282
RCV000471038
RCV000266937
RCV000310252
RCV000324442
RCV000725050
RCV002408819
dbSNP Id:
rs184078045
ExAC:
2:179486339 A / G
gnomAD v2:
2-179486339-A-G
gnomAD v3:
2-178621612-A-G
gnomAD v4:
2-178621612-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178621612A>G , CM000664.2:g.178621612A>G | GRCh38 |
| NC_000002.11:g.179486339A>G , CM000664.1:g.179486339A>G | GRCh37 |
| NC_000002.10:g.179194584A>G | NCBI36 |
| NG_011618.3:g.214191T>C , LRG_391:g.214191T>C | |
| NG_051363.1:g.103786A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.37508T>C | ENSP00000343764.6:p.Ile12503Thr | |
| ENST00000342175.11:c.18593T>C | ENSP00000340554.6:p.Ile6198Thr | |
| ENST00000359218.10:c.18392T>C | ENSP00000352154.5:p.Ile6131Thr | |
| ENST00000342175.10:c.18593T>C | ENSP00000340554.6:p.Ile6198Thr | |
| ENST00000342992.10:c.37508T>C | ENSP00000343764.6:p.Ile12503Thr | |
| ENST00000359218.9:c.18392T>C | ENSP00000352154.5:p.Ile6131Thr | |
| ENST00000460472.6:c.18017T>C | ENSP00000434586.1:p.Ile6006Thr | |
| ENST00000589042.5:c.45212T>C MANE Select | ENSP00000467141.1:p.Ile15071Thr | |
| ENST00000591111.5:c.40289T>C | ENSP00000465570.1:p.Ile13430Thr | |
| ENST00000615779.4:c.40289T>C | ENSP00000483597.1:p.Ile13430Thr | |
| NM_001256850.1:c.40289T>C | NP_001243779.1:p.Ile13430Thr | |
| NM_001267550.2:c.45212T>C MANE Select | NP_001254479.2:p.Ile15071Thr | |
| NM_003319.4:c.18017T>C | NP_003310.4:p.Ile6006Thr | |
| NM_133378.4:c.37508T>C | NP_596869.4:p.Ile12503Thr | |
| NM_133432.3:c.18392T>C | NP_597676.3:p.Ile6131Thr | |
| NM_133437.4:c.18593T>C | NP_597681.4:p.Ile6198Thr | |
| XM_011511729.1:c.44309T>C | XP_011510031.1:p.Ile14770Thr | |
| XM_011511730.1:c.18203T>C | XP_011510032.1:p.Ile6068Thr | |
| XM_011511731.1:c.18062T>C | XP_011510033.1:p.Ile6021Thr | |
| XM_017004819.1:c.44105T>C | XP_016860308.1:p.Ile14702Thr | |
| XM_017004820.1:c.39503T>C | XP_016860309.1:p.Ile13168Thr | |
| XM_017004821.1:c.39500T>C | XP_016860310.1:p.Ile13167Thr | |
| XM_017004822.1:c.36542T>C | XP_016860311.1:p.Ile12181Thr | |
| XM_017004823.1:c.18158T>C | XP_016860312.1:p.Ile6053Thr | |
| XM_024453094.1:c.39653T>C | XP_024308862.1:p.Ile13218Thr | |
| XM_024453095.1:c.39650T>C | XP_024308863.1:p.Ile13217Thr | |
| XM_024453096.1:c.39083T>C | XP_024308864.1:p.Ile13028Thr | |
| XM_024453097.1:c.36425T>C | XP_024308865.1:p.Ile12142Thr | |
| XM_024453098.1:c.36344T>C | XP_024308866.1:p.Ile12115Thr | |
| XM_024453099.1:c.18107T>C | XP_024308867.1:p.Ile6036Thr | |
| XM_024453100.1:c.7961T>C | XP_024308868.1:p.Ile2654Thr |