Linked Data
ClinVar Variation Id:
47826
ClinVar RCV Id:
RCV000041095
RCV000229415
RCV000619226
RCV000770112
RCV001528764
RCV001839804
RCV001839806
RCV001839805
RCV001839807
dbSNP Id:
rs34618570
ExAC:
2:179605380 T / A
gnomAD v2:
2-179605380-T-A
gnomAD v3:
2-178740653-T-A
gnomAD v4:
2-178740653-T-A
PubMed:
PMID:23861362
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178740653T>A , CM000664.2:g.178740653T>A | GRCh38 |
| NC_000002.11:g.179605380T>A , CM000664.1:g.179605380T>A | GRCh37 |
| NC_000002.10:g.179313625T>A | NCBI36 |
| NG_011618.3:g.95150A>T , LRG_391:g.95150A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.10361-2293A>T | ENSP00000343764.6:n.10361-2293A>T | |
| ENST00000342175.11:c.12067A>T | ENSP00000340554.6:p.Ile4023Phe | |
| ENST00000359218.10:c.11866A>T | ENSP00000352154.5:p.Ile3956Phe | |
| ENST00000342175.10:c.12067A>T | ENSP00000340554.6:p.Ile4023Phe | |
| ENST00000342992.10:c.10361-2293A>T | ENSP00000343764.6:n.10361-2293A>T | |
| ENST00000359218.9:c.11866A>T | ENSP00000352154.5:p.Ile3956Phe | |
| ENST00000460472.6:c.11491A>T | ENSP00000434586.1:p.Ile3831Phe | |
| ENST00000589042.5:c.12580A>T MANE Select | ENSP00000467141.1:p.Ile4194Phe | |
| ENST00000591111.5:c.11629A>T | ENSP00000465570.1:p.Ile3877Phe | |
| ENST00000615779.4:c.11629A>T | ENSP00000483597.1:p.Ile3877Phe | |
| NM_001256850.1:c.11629A>T | NP_001243779.1:p.Ile3877Phe | |
| NM_001267550.2:c.12580A>T MANE Select | NP_001254479.2:p.Ile4194Phe | |
| NM_003319.4:c.11491A>T | NP_003310.4:p.Ile3831Phe | |
| NM_133378.4:c.10361-2293A>T | NP_596869.4:n.10361-2293A>T | |
| NM_133432.3:c.11866A>T | NP_597676.3:p.Ile3956Phe | |
| NM_133437.4:c.12067A>T | NP_597681.4:p.Ile4023Phe | |
| XM_011511729.1:c.11677A>T | XP_011510031.1:p.Ile3893Phe | |
| XM_011511730.1:c.11677A>T | XP_011510032.1:p.Ile3893Phe | |
| XM_011511731.1:c.11536A>T | XP_011510033.1:p.Ile3846Phe | |
| XM_017004819.1:c.11632A>T | XP_016860308.1:p.Ile3878Phe | |
| XM_017004820.1:c.10364-2293A>T | XP_016860309.1:n.10364-2293A>T | |
| XM_017004821.1:c.10361-2293A>T | XP_016860310.1:n.10361-2293A>T | |
| XM_017004822.1:c.11632A>T | XP_016860311.1:p.Ile3878Phe | |
| XM_017004823.1:c.11632A>T | XP_016860312.1:p.Ile3878Phe | |
| XM_024453094.1:c.11632A>T | XP_024308862.1:p.Ile3878Phe | |
| XM_024453095.1:c.11632A>T | XP_024308863.1:p.Ile3878Phe | |
| XM_024453096.1:c.11632A>T | XP_024308864.1:p.Ile3878Phe | |
| XM_024453097.1:c.11632A>T | XP_024308865.1:p.Ile3878Phe | |
| XM_024453098.1:c.11632A>T | XP_024308866.1:p.Ile3878Phe | |
| XM_024453099.1:c.11632A>T | XP_024308867.1:p.Ile3878Phe |