Linked Data
ClinVar Variation Id:
264496
dbSNP Id:
rs551387805
ExAC:
2:179606001 T / C
gnomAD v2:
2-179606001-T-C
gnomAD v3:
2-178741274-T-C
gnomAD v4:
2-178741274-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178741274T>C , CM000664.2:g.178741274T>C | GRCh38 |
| NC_000002.11:g.179606001T>C , CM000664.1:g.179606001T>C | GRCh37 |
| NC_000002.10:g.179314246T>C | NCBI36 |
| NG_011618.3:g.94529A>G , LRG_391:g.94529A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.10361-2914A>G | ENSP00000343764.6:n.10361-2914A>G | |
| ENST00000342175.11:c.11446A>G | ENSP00000340554.6:p.Ile3816Val | |
| ENST00000359218.10:c.11245A>G | ENSP00000352154.5:p.Ile3749Val | |
| ENST00000342175.10:c.11446A>G | ENSP00000340554.6:p.Ile3816Val | |
| ENST00000342992.10:c.10361-2914A>G | ENSP00000343764.6:n.10361-2914A>G | |
| ENST00000359218.9:c.11245A>G | ENSP00000352154.5:p.Ile3749Val | |
| ENST00000460472.6:c.10870A>G | ENSP00000434586.1:p.Ile3624Val | |
| ENST00000589042.5:c.11959A>G MANE Select | ENSP00000467141.1:p.Ile3987Val | |
| ENST00000591111.5:c.11008A>G | ENSP00000465570.1:p.Ile3670Val | |
| ENST00000615779.4:c.11008A>G | ENSP00000483597.1:p.Ile3670Val | |
| NM_001256850.1:c.11008A>G | NP_001243779.1:p.Ile3670Val | |
| NM_001267550.2:c.11959A>G MANE Select | NP_001254479.2:p.Ile3987Val | |
| NM_003319.4:c.10870A>G | NP_003310.4:p.Ile3624Val | |
| NM_133378.4:c.10361-2914A>G | NP_596869.4:n.10361-2914A>G | |
| NM_133432.3:c.11245A>G | NP_597676.3:p.Ile3749Val | |
| NM_133437.4:c.11446A>G | NP_597681.4:p.Ile3816Val | |
| XM_011511729.1:c.11056A>G | XP_011510031.1:p.Ile3686Val | |
| XM_011511730.1:c.11056A>G | XP_011510032.1:p.Ile3686Val | |
| XM_011511731.1:c.10915A>G | XP_011510033.1:p.Ile3639Val | |
| XM_017004819.1:c.11011A>G | XP_016860308.1:p.Ile3671Val | |
| XM_017004820.1:c.10364-2914A>G | XP_016860309.1:n.10364-2914A>G | |
| XM_017004821.1:c.10361-2914A>G | XP_016860310.1:n.10361-2914A>G | |
| XM_017004822.1:c.11011A>G | XP_016860311.1:p.Ile3671Val | |
| XM_017004823.1:c.11011A>G | XP_016860312.1:p.Ile3671Val | |
| XM_024453094.1:c.11011A>G | XP_024308862.1:p.Ile3671Val | |
| XM_024453095.1:c.11011A>G | XP_024308863.1:p.Ile3671Val | |
| XM_024453096.1:c.11011A>G | XP_024308864.1:p.Ile3671Val | |
| XM_024453097.1:c.11011A>G | XP_024308865.1:p.Ile3671Val | |
| XM_024453098.1:c.11011A>G | XP_024308866.1:p.Ile3671Val | |
| XM_024453099.1:c.11011A>G | XP_024308867.1:p.Ile3671Val |