Linked Data
ClinVar Variation Id:
535428
dbSNP Id:
rs759268958
ExAC:
2:179514906 C / A
gnomAD v2:
2-179514906-C-A
gnomAD v3:
2-178650179-C-A
gnomAD v4:
2-178650179-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178650179C>A , CM000664.2:g.178650179C>A | GRCh38 |
| NC_000002.11:g.179514906C>A , CM000664.1:g.179514906C>A | GRCh37 |
| NC_000002.10:g.179223151C>A | NCBI36 |
| NG_011618.3:g.185624G>T , LRG_391:g.185624G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.32500G>T | ENSP00000343764.6:p.Val10834Phe | |
| ENST00000342175.11:c.13859-7862G>T | ENSP00000340554.6:n.13859-7862G>T | |
| ENST00000359218.10:c.13658-7862G>T | ENSP00000352154.5:n.13658-7862G>T | |
| ENST00000342175.10:c.13859-7862G>T | ENSP00000340554.6:n.13859-7862G>T | |
| ENST00000342992.10:c.32500G>T | ENSP00000343764.6:p.Val10834Phe | |
| ENST00000359218.9:c.13658-7862G>T | ENSP00000352154.5:n.13658-7862G>T | |
| ENST00000414766.5:c.2441-7862G>T | ENSP00000401501.1:n.2441-7862G>T | |
| ENST00000426232.5:c.323G>T | ||
| ENST00000446966.1:c.319G>T | ENSP00000408004.1:p.Val107Phe | |
| ENST00000460472.6:c.13283-7862G>T | ENSP00000434586.1:n.13283-7862G>T | |
| ENST00000589042.5:c.39802G>T MANE Select | ENSP00000467141.1:p.Val13268Phe | |
| ENST00000591111.5:c.35281G>T | ENSP00000465570.1:p.Val11761Phe | |
| ENST00000615779.4:c.35281G>T | ENSP00000483597.1:p.Val11761Phe | |
| NM_001256850.1:c.35281G>T | NP_001243779.1:p.Val11761Phe | |
| NM_001267550.2:c.39802G>T MANE Select | NP_001254479.2:p.Val13268Phe | |
| NM_003319.4:c.13283-7862G>T | NP_003310.4:n.13283-7862G>T | |
| NM_133378.4:c.32500G>T | NP_596869.4:p.Val10834Phe | |
| NM_133432.3:c.13658-7862G>T | NP_597676.3:n.13658-7862G>T | |
| NM_133437.4:c.13859-7862G>T | NP_597681.4:n.13859-7862G>T | |
| XM_011511729.1:c.38899G>T | XP_011510031.1:p.Val12967Phe | |
| XM_011511730.1:c.13469-7862G>T | XP_011510032.1:n.13469-7862G>T | |
| XM_011511731.1:c.13328-7862G>T | XP_011510033.1:n.13328-7862G>T | |
| XM_017004819.1:c.38695G>T | XP_016860308.1:p.Val12899Phe | |
| XM_017004820.1:c.34093G>T | XP_016860309.1:p.Val11365Phe | |
| XM_017004821.1:c.34090G>T | XP_016860310.1:p.Val11364Phe | |
| XM_017004822.1:c.31859-7862G>T | XP_016860311.1:n.31859-7862G>T | |
| XM_017004823.1:c.13424-7862G>T | XP_016860312.1:n.13424-7862G>T | |
| XM_024453094.1:c.34243G>T | XP_024308862.1:p.Val11415Phe | |
| XM_024453095.1:c.34240G>T | XP_024308863.1:p.Val11414Phe | |
| XM_024453096.1:c.33673G>T | XP_024308864.1:p.Val11225Phe | |
| XM_024453097.1:c.31691-7862G>T | XP_024308865.1:n.31691-7862G>T | |
| XM_024453098.1:c.31610-7862G>T | XP_024308866.1:n.31610-7862G>T | |
| XM_024453099.1:c.13424-7862G>T | XP_024308867.1:n.13424-7862G>T | |
| XM_024453100.1:c.2551G>T | XP_024308868.1:p.Val851Phe |