Linked Data
ClinVar Variation Id:
46935
ClinVar RCV Id:
RCV000040205
RCV000082399
RCV000279186
RCV000336318
RCV000337656
RCV000294379
RCV000385921
RCV000620121
RCV001086509
RCV001798149
RCV004541151
dbSNP Id:
rs201944202
ExAC:
2:179507024 C / A
gnomAD v2:
2-179507024-C-A
gnomAD v3:
2-178642297-C-A
gnomAD v4:
2-178642297-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178642297C>A , CM000664.2:g.178642297C>A | GRCh38 |
| NC_000002.11:g.179507024C>A , CM000664.1:g.179507024C>A | GRCh37 |
| NC_000002.10:g.179215269C>A | NCBI36 |
| NG_011618.3:g.193506G>T , LRG_391:g.193506G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.32794G>T | ENSP00000343764.6:p.Val10932Phe | |
| ENST00000342175.11:c.13879G>T | ENSP00000340554.6:p.Val4627Phe | |
| ENST00000359218.10:c.13678G>T | ENSP00000352154.5:p.Val4560Phe | |
| ENST00000342175.10:c.13879G>T | ENSP00000340554.6:p.Val4627Phe | |
| ENST00000342992.10:c.32794G>T | ENSP00000343764.6:p.Val10932Phe | |
| ENST00000359218.9:c.13678G>T | ENSP00000352154.5:p.Val4560Phe | |
| ENST00000414766.5:c.2461G>T | ENSP00000401501.1:p.Val821Phe | |
| ENST00000426232.5:c.597-1667G>T | ||
| ENST00000446966.1:c.995-1667G>T | ENSP00000408004.1:n.995-1667G>T | |
| ENST00000460472.6:c.13303G>T | ENSP00000434586.1:p.Val4435Phe | |
| ENST00000589042.5:c.40498G>T MANE Select | ENSP00000467141.1:p.Val13500Phe | |
| ENST00000591111.5:c.35575G>T | ENSP00000465570.1:p.Val11859Phe | |
| ENST00000615779.4:c.35575G>T | ENSP00000483597.1:p.Val11859Phe | |
| NM_001256850.1:c.35575G>T | NP_001243779.1:p.Val11859Phe | |
| NM_001267550.2:c.40498G>T MANE Select | NP_001254479.2:p.Val13500Phe | |
| NM_003319.4:c.13303G>T | NP_003310.4:p.Val4435Phe | |
| NM_133378.4:c.32794G>T | NP_596869.4:p.Val10932Phe | |
| NM_133432.3:c.13678G>T | NP_597676.3:p.Val4560Phe | |
| NM_133437.4:c.13879G>T | NP_597681.4:p.Val4627Phe | |
| XM_011511729.1:c.39595G>T | XP_011510031.1:p.Val13199Phe | |
| XM_011511730.1:c.13489G>T | XP_011510032.1:p.Val4497Phe | |
| XM_011511731.1:c.13348G>T | XP_011510033.1:p.Val4450Phe | |
| XM_017004819.1:c.39391G>T | XP_016860308.1:p.Val13131Phe | |
| XM_017004820.1:c.34789G>T | XP_016860309.1:p.Val11597Phe | |
| XM_017004821.1:c.34786G>T | XP_016860310.1:p.Val11596Phe | |
| XM_017004822.1:c.31879G>T | XP_016860311.1:p.Val10627Phe | |
| XM_017004823.1:c.13444G>T | XP_016860312.1:p.Val4482Phe | |
| XM_024453094.1:c.34939G>T | XP_024308862.1:p.Val11647Phe | |
| XM_024453095.1:c.34936G>T | XP_024308863.1:p.Val11646Phe | |
| XM_024453096.1:c.34369G>T | XP_024308864.1:p.Val11457Phe | |
| XM_024453097.1:c.31711G>T | XP_024308865.1:p.Val10571Phe | |
| XM_024453098.1:c.31630G>T | XP_024308866.1:p.Val10544Phe | |
| XM_024453099.1:c.13444G>T | XP_024308867.1:p.Val4482Phe | |
| XM_024453100.1:c.3247G>T | XP_024308868.1:p.Val1083Phe |