Linked Data
ClinVar Variation Id:
332875
ClinVar RCV Id:
RCV000292594
RCV000300360
RCV000350922
RCV000349531
RCV000401236
RCV000533453
RCV002379221
dbSNP Id:
rs750761966
ExAC:
2:179505290 C / T
gnomAD v2:
2-179505290-C-T
gnomAD v3:
2-178640563-C-T
gnomAD v4:
2-178640563-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178640563C>T , CM000664.2:g.178640563C>T | GRCh38 |
| NC_000002.11:g.179505290C>T , CM000664.1:g.179505290C>T | GRCh37 |
| NC_000002.10:g.179213535C>T | NCBI36 |
| NG_011618.3:g.195240G>A , LRG_391:g.195240G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.32997G>A | ENSP00000343764.6:p.Arg10999= | |
| ENST00000342175.11:c.14082G>A | ENSP00000340554.6:p.Arg4694= | |
| ENST00000359218.10:c.13881G>A | ENSP00000352154.5:p.Arg4627= | |
| ENST00000342175.10:c.14082G>A | ENSP00000340554.6:p.Arg4694= | |
| ENST00000342992.10:c.32997G>A | ENSP00000343764.6:p.Arg10999= | |
| ENST00000359218.9:c.13881G>A | ENSP00000352154.5:p.Arg4627= | |
| ENST00000414766.5:c.2664G>A | ENSP00000401501.1:p.Arg888= | |
| ENST00000426232.5:c.664G>A | ||
| ENST00000446966.1:c.1062G>A | ENSP00000408004.1:p.Arg354= | |
| ENST00000460472.6:c.13506G>A | ENSP00000434586.1:p.Arg4502= | |
| ENST00000589042.5:c.40701G>A MANE Select | ENSP00000467141.1:p.Arg13567= | |
| ENST00000591111.5:c.35778G>A | ENSP00000465570.1:p.Arg11926= | |
| ENST00000615779.4:c.35778G>A | ENSP00000483597.1:p.Arg11926= | |
| NM_001256850.1:c.35778G>A | NP_001243779.1:p.Arg11926= | |
| NM_001267550.2:c.40701G>A MANE Select | NP_001254479.2:p.Arg13567= | |
| NM_003319.4:c.13506G>A | NP_003310.4:p.Arg4502= | |
| NM_133378.4:c.32997G>A | NP_596869.4:p.Arg10999= | |
| NM_133432.3:c.13881G>A | NP_597676.3:p.Arg4627= | |
| NM_133437.4:c.14082G>A | NP_597681.4:p.Arg4694= | |
| XM_011511729.1:c.39798G>A | XP_011510031.1:p.Arg13266= | |
| XM_011511730.1:c.13692G>A | XP_011510032.1:p.Arg4564= | |
| XM_011511731.1:c.13551G>A | XP_011510033.1:p.Arg4517= | |
| XM_017004819.1:c.39594G>A | XP_016860308.1:p.Arg13198= | |
| XM_017004820.1:c.34992G>A | XP_016860309.1:p.Arg11664= | |
| XM_017004821.1:c.34989G>A | XP_016860310.1:p.Arg11663= | |
| XM_017004822.1:c.32082G>A | XP_016860311.1:p.Arg10694= | |
| XM_017004823.1:c.13647G>A | XP_016860312.1:p.Arg4549= | |
| XM_024453094.1:c.35142G>A | XP_024308862.1:p.Arg11714= | |
| XM_024453095.1:c.35139G>A | XP_024308863.1:p.Arg11713= | |
| XM_024453096.1:c.34572G>A | XP_024308864.1:p.Arg11524= | |
| XM_024453097.1:c.31914G>A | XP_024308865.1:p.Arg10638= | |
| XM_024453098.1:c.31833G>A | XP_024308866.1:p.Arg10611= | |
| XM_024453099.1:c.13647G>A | XP_024308867.1:p.Arg4549= | |
| XM_024453100.1:c.3450G>A | XP_024308868.1:p.Arg1150= |