Linked Data
ClinVar Variation Id:
229444
dbSNP Id:
rs145308734
ExAC:
2:179643728 T / G
gnomAD v2:
2-179643728-T-G
gnomAD v3:
2-178779001-T-G
gnomAD v4:
2-178779001-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178779001T>G , CM000664.2:g.178779001T>G | GRCh38 |
| NC_000002.11:g.179643728T>G , CM000664.1:g.179643728T>G | GRCh37 |
| NC_000002.10:g.179351973T>G | NCBI36 |
| NG_011618.3:g.56802A>C , LRG_391:g.56802A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.4081A>C | ENSP00000343764.6:p.Ile1361Leu | |
| ENST00000342175.11:c.3943A>C | ENSP00000340554.6:p.Ile1315Leu | |
| ENST00000359218.10:c.3943A>C | ENSP00000352154.5:p.Ile1315Leu | |
| ENST00000360870.10:c.4081A>C MANE Plus Clinical | ENSP00000354117.4:p.Ile1361Leu | |
| ENST00000342175.10:c.3943A>C | ENSP00000340554.6:p.Ile1315Leu | |
| ENST00000342992.10:c.4081A>C | ENSP00000343764.6:p.Ile1361Leu | |
| ENST00000359218.9:c.3943A>C | ENSP00000352154.5:p.Ile1315Leu | |
| ENST00000360870.9:c.4081A>C | ENSP00000354117.4:p.Ile1361Leu | |
| ENST00000460472.6:c.3943A>C | ENSP00000434586.1:p.Ile1315Leu | |
| ENST00000589042.5:c.4081A>C MANE Select | ENSP00000467141.1:p.Ile1361Leu | |
| ENST00000591111.5:c.4081A>C | ENSP00000465570.1:p.Ile1361Leu | |
| ENST00000615779.4:c.4081A>C | ENSP00000483597.1:p.Ile1361Leu | |
| NM_001256850.1:c.4081A>C | NP_001243779.1:p.Ile1361Leu | |
| NM_001267550.2:c.4081A>C MANE Select | NP_001254479.2:p.Ile1361Leu | |
| NM_003319.4:c.3943A>C | NP_003310.4:p.Ile1315Leu | |
| NM_133378.4:c.4081A>C | NP_596869.4:p.Ile1361Leu | |
| NM_133379.4:c.4081A>C , LRG_391t2:c.4081A>C | NP_596870.2:p.Ile1361Leu | |
| NM_133432.3:c.3943A>C | NP_597676.3:p.Ile1315Leu | |
| NM_133437.4:c.3943A>C | NP_597681.4:p.Ile1315Leu | |
| NR_120594.1:n.1830+246T>G | ||
| XM_011511729.1:c.4129A>C | XP_011510031.1:p.Ile1377Leu | |
| XM_011511730.1:c.4129A>C | XP_011510032.1:p.Ile1377Leu | |
| XM_011511731.1:c.3988A>C | XP_011510033.1:p.Ile1330Leu | |
| XM_011511732.1:c.4126A>C | XP_011510034.1:p.Ile1376Leu | |
| XM_017004819.1:c.4084A>C | XP_016860308.1:p.Ile1362Leu | |
| XM_017004820.1:c.4084A>C | XP_016860309.1:p.Ile1362Leu | |
| XM_017004821.1:c.4081A>C | XP_016860310.1:p.Ile1361Leu | |
| XM_017004822.1:c.4084A>C | XP_016860311.1:p.Ile1362Leu | |
| XM_017004823.1:c.4084A>C | XP_016860312.1:p.Ile1362Leu | |
| XM_024453094.1:c.4084A>C | XP_024308862.1:p.Ile1362Leu | |
| XM_024453095.1:c.4084A>C | XP_024308863.1:p.Ile1362Leu | |
| XM_024453096.1:c.4084A>C | XP_024308864.1:p.Ile1362Leu | |
| XM_024453097.1:c.4084A>C | XP_024308865.1:p.Ile1362Leu | |
| XM_024453098.1:c.4084A>C | XP_024308866.1:p.Ile1362Leu | |
| XM_024453099.1:c.4084A>C | XP_024308867.1:p.Ile1362Leu | |
| NM_133379.5:c.4081A>C MANE Plus Clinical | NP_596870.2:p.Ile1361Leu |