Linked Data
ClinVar Variation Id:
202620
dbSNP Id:
rs149059189
ExAC:
2:179500810 C / T
gnomAD v2:
2-179500810-C-T
gnomAD v3:
2-178636083-C-T
gnomAD v4:
2-178636083-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178636083C>T , CM000664.2:g.178636083C>T | GRCh38 |
| NC_000002.11:g.179500810C>T , CM000664.1:g.179500810C>T | GRCh37 |
| NC_000002.10:g.179209055C>T | NCBI36 |
| NG_011618.3:g.199720G>A , LRG_391:g.199720G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.33784G>A | ENSP00000343764.6:p.Val11262Ile | |
| ENST00000342175.11:c.14869G>A | ENSP00000340554.6:p.Val4957Ile | |
| ENST00000359218.10:c.14668G>A | ENSP00000352154.5:p.Val4890Ile | |
| ENST00000342175.10:c.14869G>A | ENSP00000340554.6:p.Val4957Ile | |
| ENST00000342992.10:c.33784G>A | ENSP00000343764.6:p.Val11262Ile | |
| ENST00000359218.9:c.14668G>A | ENSP00000352154.5:p.Val4890Ile | |
| ENST00000460472.6:c.14293G>A | ENSP00000434586.1:p.Val4765Ile | |
| ENST00000589042.5:c.41488G>A MANE Select | ENSP00000467141.1:p.Val13830Ile | |
| ENST00000591111.5:c.36565G>A | ENSP00000465570.1:p.Val12189Ile | |
| ENST00000615779.4:c.36565G>A | ENSP00000483597.1:p.Val12189Ile | |
| NM_001256850.1:c.36565G>A | NP_001243779.1:p.Val12189Ile | |
| NM_001267550.2:c.41488G>A MANE Select | NP_001254479.2:p.Val13830Ile | |
| NM_003319.4:c.14293G>A | NP_003310.4:p.Val4765Ile | |
| NM_133378.4:c.33784G>A | NP_596869.4:p.Val11262Ile | |
| NM_133432.3:c.14668G>A | NP_597676.3:p.Val4890Ile | |
| NM_133437.4:c.14869G>A | NP_597681.4:p.Val4957Ile | |
| XM_011511729.1:c.40585G>A | XP_011510031.1:p.Val13529Ile | |
| XM_011511730.1:c.14479G>A | XP_011510032.1:p.Val4827Ile | |
| XM_011511731.1:c.14338G>A | XP_011510033.1:p.Val4780Ile | |
| XM_017004819.1:c.40381G>A | XP_016860308.1:p.Val13461Ile | |
| XM_017004820.1:c.35779G>A | XP_016860309.1:p.Val11927Ile | |
| XM_017004821.1:c.35776G>A | XP_016860310.1:p.Val11926Ile | |
| XM_017004822.1:c.32818G>A | XP_016860311.1:p.Val10940Ile | |
| XM_017004823.1:c.14434G>A | XP_016860312.1:p.Val4812Ile | |
| XM_024453094.1:c.35929G>A | XP_024308862.1:p.Val11977Ile | |
| XM_024453095.1:c.35926G>A | XP_024308863.1:p.Val11976Ile | |
| XM_024453096.1:c.35359G>A | XP_024308864.1:p.Val11787Ile | |
| XM_024453097.1:c.32701G>A | XP_024308865.1:p.Val10901Ile | |
| XM_024453098.1:c.32620G>A | XP_024308866.1:p.Val10874Ile | |
| XM_024453099.1:c.14383G>A | XP_024308867.1:p.Val4795Ile | |
| XM_024453100.1:c.4237G>A | XP_024308868.1:p.Val1413Ile |