Linked Data
ClinVar Variation Id:
535090
dbSNP Id:
rs367744803
ExAC:
2:179494103 G / A
gnomAD v2:
2-179494103-G-A
gnomAD v3:
2-178629376-G-A
gnomAD v4:
2-178629376-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178629376G>A , CM000664.2:g.178629376G>A | GRCh38 |
| NC_000002.11:g.179494103G>A , CM000664.1:g.179494103G>A | GRCh37 |
| NC_000002.10:g.179202348G>A | NCBI36 |
| NG_011618.3:g.206427C>T , LRG_391:g.206427C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.36645C>T | ENSP00000343764.6:p.Phe12215= | |
| ENST00000342175.11:c.17730C>T | ENSP00000340554.6:p.Phe5910= | |
| ENST00000359218.10:c.17529C>T | ENSP00000352154.5:p.Phe5843= | |
| ENST00000342175.10:c.17730C>T | ENSP00000340554.6:p.Phe5910= | |
| ENST00000342992.10:c.36645C>T | ENSP00000343764.6:p.Phe12215= | |
| ENST00000359218.9:c.17529C>T | ENSP00000352154.5:p.Phe5843= | |
| ENST00000460472.6:c.17154C>T | ENSP00000434586.1:p.Phe5718= | |
| ENST00000589042.5:c.44349C>T MANE Select | ENSP00000467141.1:p.Phe14783= | |
| ENST00000591111.5:c.39426C>T | ENSP00000465570.1:p.Phe13142= | |
| ENST00000615779.4:c.39426C>T | ENSP00000483597.1:p.Phe13142= | |
| NM_001256850.1:c.39426C>T | NP_001243779.1:p.Phe13142= | |
| NM_001267550.2:c.44349C>T MANE Select | NP_001254479.2:p.Phe14783= | |
| NM_003319.4:c.17154C>T | NP_003310.4:p.Phe5718= | |
| NM_133378.4:c.36645C>T | NP_596869.4:p.Phe12215= | |
| NM_133432.3:c.17529C>T | NP_597676.3:p.Phe5843= | |
| NM_133437.4:c.17730C>T | NP_597681.4:p.Phe5910= | |
| XM_011511729.1:c.43446C>T | XP_011510031.1:p.Phe14482= | |
| XM_011511730.1:c.17340C>T | XP_011510032.1:p.Phe5780= | |
| XM_011511731.1:c.17199C>T | XP_011510033.1:p.Phe5733= | |
| XM_017004819.1:c.43242C>T | XP_016860308.1:p.Phe14414= | |
| XM_017004820.1:c.38640C>T | XP_016860309.1:p.Phe12880= | |
| XM_017004821.1:c.38637C>T | XP_016860310.1:p.Phe12879= | |
| XM_017004822.1:c.35679C>T | XP_016860311.1:p.Phe11893= | |
| XM_017004823.1:c.17295C>T | XP_016860312.1:p.Phe5765= | |
| XM_024453094.1:c.38790C>T | XP_024308862.1:p.Phe12930= | |
| XM_024453095.1:c.38787C>T | XP_024308863.1:p.Phe12929= | |
| XM_024453096.1:c.38220C>T | XP_024308864.1:p.Phe12740= | |
| XM_024453097.1:c.35562C>T | XP_024308865.1:p.Phe11854= | |
| XM_024453098.1:c.35481C>T | XP_024308866.1:p.Phe11827= | |
| XM_024453099.1:c.17244C>T | XP_024308867.1:p.Phe5748= | |
| XM_024453100.1:c.7098C>T | XP_024308868.1:p.Phe2366= |