Linked Data
ClinVar Variation Id:
515156
dbSNP Id:
rs766145596
ExAC:
2:179510660 T / C
gnomAD v2:
2-179510660-T-C
gnomAD v3:
2-178645933-T-C
gnomAD v4:
2-178645933-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178645933T>C , CM000664.2:g.178645933T>C | GRCh38 |
| NC_000002.11:g.179510660T>C , CM000664.1:g.179510660T>C | GRCh37 |
| NC_000002.10:g.179218905T>C | NCBI36 |
| NG_011618.3:g.189870A>G , LRG_391:g.189870A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.32691A>G | ENSP00000343764.6:p.Ile10897Met | |
| ENST00000342175.11:c.13859-3616A>G | ENSP00000340554.6:n.13859-3616A>G | |
| ENST00000359218.10:c.13658-3616A>G | ENSP00000352154.5:n.13658-3616A>G | |
| ENST00000342175.10:c.13859-3616A>G | ENSP00000340554.6:n.13859-3616A>G | |
| ENST00000342992.10:c.32691A>G | ENSP00000343764.6:p.Ile10897Met | |
| ENST00000359218.9:c.13658-3616A>G | ENSP00000352154.5:n.13658-3616A>G | |
| ENST00000414766.5:c.2441-3616A>G | ENSP00000401501.1:n.2441-3616A>G | |
| ENST00000426232.5:c.514A>G | ||
| ENST00000446966.1:c.912A>G | ENSP00000408004.1:p.Ile304Met | |
| ENST00000460472.6:c.13283-3616A>G | ENSP00000434586.1:n.13283-3616A>G | |
| ENST00000589042.5:c.40395A>G MANE Select | ENSP00000467141.1:p.Ile13465Met | |
| ENST00000591111.5:c.35472A>G | ENSP00000465570.1:p.Ile11824Met | |
| ENST00000615779.4:c.35472A>G | ENSP00000483597.1:p.Ile11824Met | |
| NM_001256850.1:c.35472A>G | NP_001243779.1:p.Ile11824Met | |
| NM_001267550.2:c.40395A>G MANE Select | NP_001254479.2:p.Ile13465Met | |
| NM_003319.4:c.13283-3616A>G | NP_003310.4:n.13283-3616A>G | |
| NM_133378.4:c.32691A>G | NP_596869.4:p.Ile10897Met | |
| NM_133432.3:c.13658-3616A>G | NP_597676.3:n.13658-3616A>G | |
| NM_133437.4:c.13859-3616A>G | NP_597681.4:n.13859-3616A>G | |
| XM_011511729.1:c.39492A>G | XP_011510031.1:p.Ile13164Met | |
| XM_011511730.1:c.13469-3616A>G | XP_011510032.1:n.13469-3616A>G | |
| XM_011511731.1:c.13328-3616A>G | XP_011510033.1:n.13328-3616A>G | |
| XM_017004819.1:c.39288A>G | XP_016860308.1:p.Ile13096Met | |
| XM_017004820.1:c.34686A>G | XP_016860309.1:p.Ile11562Met | |
| XM_017004821.1:c.34683A>G | XP_016860310.1:p.Ile11561Met | |
| XM_017004822.1:c.31859-3616A>G | XP_016860311.1:n.31859-3616A>G | |
| XM_017004823.1:c.13424-3616A>G | XP_016860312.1:n.13424-3616A>G | |
| XM_024453094.1:c.34836A>G | XP_024308862.1:p.Ile11612Met | |
| XM_024453095.1:c.34833A>G | XP_024308863.1:p.Ile11611Met | |
| XM_024453096.1:c.34266A>G | XP_024308864.1:p.Ile11422Met | |
| XM_024453097.1:c.31691-3616A>G | XP_024308865.1:n.31691-3616A>G | |
| XM_024453098.1:c.31610-3616A>G | XP_024308866.1:n.31610-3616A>G | |
| XM_024453099.1:c.13424-3616A>G | XP_024308867.1:n.13424-3616A>G | |
| XM_024453100.1:c.3144A>G | XP_024308868.1:p.Ile1048Met |