Linked Data
ClinVar Variation Id:
46956
dbSNP Id:
rs369623392
ExAC:
2:179498717 A / G
gnomAD v2:
2-179498717-A-G
gnomAD v3:
2-178633990-A-G
gnomAD v4:
2-178633990-A-G
PubMed:
PMID:24503780
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178633990A>G , CM000664.2:g.178633990A>G | GRCh38 |
| NC_000002.11:g.179498717A>G , CM000664.1:g.179498717A>G | GRCh37 |
| NC_000002.10:g.179206962A>G | NCBI36 |
| NG_011618.3:g.201813T>C , LRG_391:g.201813T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.34805T>C | ENSP00000343764.6:p.Met11602Thr | |
| ENST00000342175.11:c.15890T>C | ENSP00000340554.6:p.Met5297Thr | |
| ENST00000359218.10:c.15689T>C | ENSP00000352154.5:p.Met5230Thr | |
| ENST00000342175.10:c.15890T>C | ENSP00000340554.6:p.Met5297Thr | |
| ENST00000342992.10:c.34805T>C | ENSP00000343764.6:p.Met11602Thr | |
| ENST00000359218.9:c.15689T>C | ENSP00000352154.5:p.Met5230Thr | |
| ENST00000460472.6:c.15314T>C | ENSP00000434586.1:p.Met5105Thr | |
| ENST00000589042.5:c.42509T>C MANE Select | ENSP00000467141.1:p.Met14170Thr | |
| ENST00000591111.5:c.37586T>C | ENSP00000465570.1:p.Met12529Thr | |
| ENST00000615779.4:c.37586T>C | ENSP00000483597.1:p.Met12529Thr | |
| NM_001256850.1:c.37586T>C | NP_001243779.1:p.Met12529Thr | |
| NM_001267550.2:c.42509T>C MANE Select | NP_001254479.2:p.Met14170Thr | |
| NM_003319.4:c.15314T>C | NP_003310.4:p.Met5105Thr | |
| NM_133378.4:c.34805T>C | NP_596869.4:p.Met11602Thr | |
| NM_133432.3:c.15689T>C | NP_597676.3:p.Met5230Thr | |
| NM_133437.4:c.15890T>C | NP_597681.4:p.Met5297Thr | |
| XM_011511729.1:c.41606T>C | XP_011510031.1:p.Met13869Thr | |
| XM_011511730.1:c.15500T>C | XP_011510032.1:p.Met5167Thr | |
| XM_011511731.1:c.15359T>C | XP_011510033.1:p.Met5120Thr | |
| XM_017004819.1:c.41402T>C | XP_016860308.1:p.Met13801Thr | |
| XM_017004820.1:c.36800T>C | XP_016860309.1:p.Met12267Thr | |
| XM_017004821.1:c.36797T>C | XP_016860310.1:p.Met12266Thr | |
| XM_017004822.1:c.33839T>C | XP_016860311.1:p.Met11280Thr | |
| XM_017004823.1:c.15455T>C | XP_016860312.1:p.Met5152Thr | |
| XM_024453094.1:c.36950T>C | XP_024308862.1:p.Met12317Thr | |
| XM_024453095.1:c.36947T>C | XP_024308863.1:p.Met12316Thr | |
| XM_024453096.1:c.36380T>C | XP_024308864.1:p.Met12127Thr | |
| XM_024453097.1:c.33722T>C | XP_024308865.1:p.Met11241Thr | |
| XM_024453098.1:c.33641T>C | XP_024308866.1:p.Met11214Thr | |
| XM_024453099.1:c.15404T>C | XP_024308867.1:p.Met5135Thr | |
| XM_024453100.1:c.5258T>C | XP_024308868.1:p.Met1753Thr |