Linked Data
ClinVar Variation Id:
137790
ClinVar RCV Id:
RCV000125795
RCV001089327
RCV001130343
RCV001130342
RCV001130344
RCV001130345
RCV001130346
RCV000725645
RCV002399497
dbSNP Id:
rs372382546
ExAC:
2:179497473 G / A
gnomAD v2:
2-179497473-G-A
gnomAD v3:
2-178632746-G-A
gnomAD v4:
2-178632746-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178632746G>A , CM000664.2:g.178632746G>A | GRCh38 |
| NC_000002.11:g.179497473G>A , CM000664.1:g.179497473G>A | GRCh37 |
| NC_000002.10:g.179205718G>A | NCBI36 |
| NG_011618.3:g.203057C>T , LRG_391:g.203057C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.35556C>T | ENSP00000343764.6:p.Phe11852= | |
| ENST00000342175.11:c.16641C>T | ENSP00000340554.6:p.Phe5547= | |
| ENST00000359218.10:c.16440C>T | ENSP00000352154.5:p.Phe5480= | |
| ENST00000342175.10:c.16641C>T | ENSP00000340554.6:p.Phe5547= | |
| ENST00000342992.10:c.35556C>T | ENSP00000343764.6:p.Phe11852= | |
| ENST00000359218.9:c.16440C>T | ENSP00000352154.5:p.Phe5480= | |
| ENST00000460472.6:c.16065C>T | ENSP00000434586.1:p.Phe5355= | |
| ENST00000589042.5:c.43260C>T MANE Select | ENSP00000467141.1:p.Phe14420= | |
| ENST00000591111.5:c.38337C>T | ENSP00000465570.1:p.Phe12779= | |
| ENST00000615779.4:c.38337C>T | ENSP00000483597.1:p.Phe12779= | |
| NM_001256850.1:c.38337C>T | NP_001243779.1:p.Phe12779= | |
| NM_001267550.2:c.43260C>T MANE Select | NP_001254479.2:p.Phe14420= | |
| NM_003319.4:c.16065C>T | NP_003310.4:p.Phe5355= | |
| NM_133378.4:c.35556C>T | NP_596869.4:p.Phe11852= | |
| NM_133432.3:c.16440C>T | NP_597676.3:p.Phe5480= | |
| NM_133437.4:c.16641C>T | NP_597681.4:p.Phe5547= | |
| XM_011511729.1:c.42357C>T | XP_011510031.1:p.Phe14119= | |
| XM_011511730.1:c.16251C>T | XP_011510032.1:p.Phe5417= | |
| XM_011511731.1:c.16110C>T | XP_011510033.1:p.Phe5370= | |
| XM_017004819.1:c.42153C>T | XP_016860308.1:p.Phe14051= | |
| XM_017004820.1:c.37551C>T | XP_016860309.1:p.Phe12517= | |
| XM_017004821.1:c.37548C>T | XP_016860310.1:p.Phe12516= | |
| XM_017004822.1:c.34590C>T | XP_016860311.1:p.Phe11530= | |
| XM_017004823.1:c.16206C>T | XP_016860312.1:p.Phe5402= | |
| XM_024453094.1:c.37701C>T | XP_024308862.1:p.Phe12567= | |
| XM_024453095.1:c.37698C>T | XP_024308863.1:p.Phe12566= | |
| XM_024453096.1:c.37131C>T | XP_024308864.1:p.Phe12377= | |
| XM_024453097.1:c.34473C>T | XP_024308865.1:p.Phe11491= | |
| XM_024453098.1:c.34392C>T | XP_024308866.1:p.Phe11464= | |
| XM_024453099.1:c.16155C>T | XP_024308867.1:p.Phe5385= | |
| XM_024453100.1:c.6009C>T | XP_024308868.1:p.Phe2003= |