Linked Data
ClinVar Variation Id:
46989
dbSNP Id:
rs183245562
ExAC:
2:179485946 C / T
gnomAD v2:
2-179485946-C-T
gnomAD v3:
2-178621219-C-T
gnomAD v4:
2-178621219-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178621219C>T , CM000664.2:g.178621219C>T | GRCh38 |
| NC_000002.11:g.179485946C>T , CM000664.1:g.179485946C>T | GRCh37 |
| NC_000002.10:g.179194191C>T | NCBI36 |
| NG_011618.3:g.214584G>A , LRG_391:g.214584G>A | |
| NG_051363.1:g.103393C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.37795G>A | ENSP00000343764.6:p.Val12599Ile | |
| ENST00000342175.11:c.18880G>A | ENSP00000340554.6:p.Val6294Ile | |
| ENST00000359218.10:c.18679G>A | ENSP00000352154.5:p.Val6227Ile | |
| ENST00000342175.10:c.18880G>A | ENSP00000340554.6:p.Val6294Ile | |
| ENST00000342992.10:c.37795G>A | ENSP00000343764.6:p.Val12599Ile | |
| ENST00000359218.9:c.18679G>A | ENSP00000352154.5:p.Val6227Ile | |
| ENST00000460472.6:c.18304G>A | ENSP00000434586.1:p.Val6102Ile | |
| ENST00000589042.5:c.45499G>A MANE Select | ENSP00000467141.1:p.Val15167Ile | |
| ENST00000591111.5:c.40576G>A | ENSP00000465570.1:p.Val13526Ile | |
| ENST00000615779.4:c.40576G>A | ENSP00000483597.1:p.Val13526Ile | |
| NM_001256850.1:c.40576G>A | NP_001243779.1:p.Val13526Ile | |
| NM_001267550.2:c.45499G>A MANE Select | NP_001254479.2:p.Val15167Ile | |
| NM_003319.4:c.18304G>A | NP_003310.4:p.Val6102Ile | |
| NM_133378.4:c.37795G>A | NP_596869.4:p.Val12599Ile | |
| NM_133432.3:c.18679G>A | NP_597676.3:p.Val6227Ile | |
| NM_133437.4:c.18880G>A | NP_597681.4:p.Val6294Ile | |
| XM_011511729.1:c.44596G>A | XP_011510031.1:p.Val14866Ile | |
| XM_011511730.1:c.18490G>A | XP_011510032.1:p.Val6164Ile | |
| XM_011511731.1:c.18349G>A | XP_011510033.1:p.Val6117Ile | |
| XM_017004819.1:c.44392G>A | XP_016860308.1:p.Val14798Ile | |
| XM_017004820.1:c.39790G>A | XP_016860309.1:p.Val13264Ile | |
| XM_017004821.1:c.39787G>A | XP_016860310.1:p.Val13263Ile | |
| XM_017004822.1:c.36829G>A | XP_016860311.1:p.Val12277Ile | |
| XM_017004823.1:c.18445G>A | XP_016860312.1:p.Val6149Ile | |
| XM_024453094.1:c.39940G>A | XP_024308862.1:p.Val13314Ile | |
| XM_024453095.1:c.39937G>A | XP_024308863.1:p.Val13313Ile | |
| XM_024453096.1:c.39370G>A | XP_024308864.1:p.Val13124Ile | |
| XM_024453097.1:c.36712G>A | XP_024308865.1:p.Val12238Ile | |
| XM_024453098.1:c.36631G>A | XP_024308866.1:p.Val12211Ile | |
| XM_024453099.1:c.18394G>A | XP_024308867.1:p.Val6132Ile | |
| XM_024453100.1:c.8248G>A | XP_024308868.1:p.Val2750Ile |