Linked Data
ClinVar Variation Id:
46964
dbSNP Id:
rs397517571
ExAC:
2:179497981 A / G
gnomAD v2:
2-179497981-A-G
gnomAD v3:
2-178633254-A-G
gnomAD v4:
2-178633254-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178633254A>G , CM000664.2:g.178633254A>G | GRCh38 |
| NC_000002.11:g.179497981A>G , CM000664.1:g.179497981A>G | GRCh37 |
| NC_000002.10:g.179206226A>G | NCBI36 |
| NG_011618.3:g.202549T>C , LRG_391:g.202549T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.35315T>C | ENSP00000343764.6:p.Ile11772Thr | |
| ENST00000342175.11:c.16400T>C | ENSP00000340554.6:p.Ile5467Thr | |
| ENST00000359218.10:c.16199T>C | ENSP00000352154.5:p.Ile5400Thr | |
| ENST00000342175.10:c.16400T>C | ENSP00000340554.6:p.Ile5467Thr | |
| ENST00000342992.10:c.35315T>C | ENSP00000343764.6:p.Ile11772Thr | |
| ENST00000359218.9:c.16199T>C | ENSP00000352154.5:p.Ile5400Thr | |
| ENST00000460472.6:c.15824T>C | ENSP00000434586.1:p.Ile5275Thr | |
| ENST00000589042.5:c.43019T>C MANE Select | ENSP00000467141.1:p.Ile14340Thr | |
| ENST00000591111.5:c.38096T>C | ENSP00000465570.1:p.Ile12699Thr | |
| ENST00000615779.4:c.38096T>C | ENSP00000483597.1:p.Ile12699Thr | |
| NM_001256850.1:c.38096T>C | NP_001243779.1:p.Ile12699Thr | |
| NM_001267550.2:c.43019T>C MANE Select | NP_001254479.2:p.Ile14340Thr | |
| NM_003319.4:c.15824T>C | NP_003310.4:p.Ile5275Thr | |
| NM_133378.4:c.35315T>C | NP_596869.4:p.Ile11772Thr | |
| NM_133432.3:c.16199T>C | NP_597676.3:p.Ile5400Thr | |
| NM_133437.4:c.16400T>C | NP_597681.4:p.Ile5467Thr | |
| XM_011511729.1:c.42116T>C | XP_011510031.1:p.Ile14039Thr | |
| XM_011511730.1:c.16010T>C | XP_011510032.1:p.Ile5337Thr | |
| XM_011511731.1:c.15869T>C | XP_011510033.1:p.Ile5290Thr | |
| XM_017004819.1:c.41912T>C | XP_016860308.1:p.Ile13971Thr | |
| XM_017004820.1:c.37310T>C | XP_016860309.1:p.Ile12437Thr | |
| XM_017004821.1:c.37307T>C | XP_016860310.1:p.Ile12436Thr | |
| XM_017004822.1:c.34349T>C | XP_016860311.1:p.Ile11450Thr | |
| XM_017004823.1:c.15965T>C | XP_016860312.1:p.Ile5322Thr | |
| XM_024453094.1:c.37460T>C | XP_024308862.1:p.Ile12487Thr | |
| XM_024453095.1:c.37457T>C | XP_024308863.1:p.Ile12486Thr | |
| XM_024453096.1:c.36890T>C | XP_024308864.1:p.Ile12297Thr | |
| XM_024453097.1:c.34232T>C | XP_024308865.1:p.Ile11411Thr | |
| XM_024453098.1:c.34151T>C | XP_024308866.1:p.Ile11384Thr | |
| XM_024453099.1:c.15914T>C | XP_024308867.1:p.Ile5305Thr | |
| XM_024453100.1:c.5768T>C | XP_024308868.1:p.Ile1923Thr |