Linked Data
ClinVar Variation Id:
535417
dbSNP Id:
rs371621174
ExAC:
2:179485685 G / A
gnomAD v2:
2-179485685-G-A
gnomAD v3:
2-178620958-G-A
gnomAD v4:
2-178620958-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178620958G>A , CM000664.2:g.178620958G>A | GRCh38 |
| NC_000002.11:g.179485685G>A , CM000664.1:g.179485685G>A | GRCh37 |
| NC_000002.10:g.179193930G>A | NCBI36 |
| NG_011618.3:g.214845C>T , LRG_391:g.214845C>T | |
| NG_051363.1:g.103132G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.37948C>T | ENSP00000343764.6:p.Arg12650Trp | |
| ENST00000342175.11:c.19033C>T | ENSP00000340554.6:p.Arg6345Trp | |
| ENST00000359218.10:c.18832C>T | ENSP00000352154.5:p.Arg6278Trp | |
| ENST00000342175.10:c.19033C>T | ENSP00000340554.6:p.Arg6345Trp | |
| ENST00000342992.10:c.37948C>T | ENSP00000343764.6:p.Arg12650Trp | |
| ENST00000359218.9:c.18832C>T | ENSP00000352154.5:p.Arg6278Trp | |
| ENST00000460472.6:c.18457C>T | ENSP00000434586.1:p.Arg6153Trp | |
| ENST00000589042.5:c.45652C>T MANE Select | ENSP00000467141.1:p.Arg15218Trp | |
| ENST00000591111.5:c.40729C>T | ENSP00000465570.1:p.Arg13577Trp | |
| ENST00000615779.4:c.40729C>T | ENSP00000483597.1:p.Arg13577Trp | |
| NM_001256850.1:c.40729C>T | NP_001243779.1:p.Arg13577Trp | |
| NM_001267550.2:c.45652C>T MANE Select | NP_001254479.2:p.Arg15218Trp | |
| NM_003319.4:c.18457C>T | NP_003310.4:p.Arg6153Trp | |
| NM_133378.4:c.37948C>T | NP_596869.4:p.Arg12650Trp | |
| NM_133432.3:c.18832C>T | NP_597676.3:p.Arg6278Trp | |
| NM_133437.4:c.19033C>T | NP_597681.4:p.Arg6345Trp | |
| XM_011511729.1:c.44749C>T | XP_011510031.1:p.Arg14917Trp | |
| XM_011511730.1:c.18643C>T | XP_011510032.1:p.Arg6215Trp | |
| XM_011511731.1:c.18502C>T | XP_011510033.1:p.Arg6168Trp | |
| XM_017004819.1:c.44545C>T | XP_016860308.1:p.Arg14849Trp | |
| XM_017004820.1:c.39943C>T | XP_016860309.1:p.Arg13315Trp | |
| XM_017004821.1:c.39940C>T | XP_016860310.1:p.Arg13314Trp | |
| XM_017004822.1:c.36982C>T | XP_016860311.1:p.Arg12328Trp | |
| XM_017004823.1:c.18598C>T | XP_016860312.1:p.Arg6200Trp | |
| XM_024453094.1:c.40093C>T | XP_024308862.1:p.Arg13365Trp | |
| XM_024453095.1:c.40090C>T | XP_024308863.1:p.Arg13364Trp | |
| XM_024453096.1:c.39523C>T | XP_024308864.1:p.Arg13175Trp | |
| XM_024453097.1:c.36865C>T | XP_024308865.1:p.Arg12289Trp | |
| XM_024453098.1:c.36784C>T | XP_024308866.1:p.Arg12262Trp | |
| XM_024453099.1:c.18547C>T | XP_024308867.1:p.Arg6183Trp | |
| XM_024453100.1:c.8401C>T | XP_024308868.1:p.Arg2801Trp |