Linked Data
ClinVar Variation Id:
498193
dbSNP Id:
rs201725483
ExAC:
2:179500239 T / C
gnomAD v2:
2-179500239-T-C
gnomAD v3:
2-178635512-T-C
gnomAD v4:
2-178635512-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178635512T>C , CM000664.2:g.178635512T>C | GRCh38 |
| NC_000002.11:g.179500239T>C , CM000664.1:g.179500239T>C | GRCh37 |
| NC_000002.10:g.179208484T>C | NCBI36 |
| NG_011618.3:g.200291A>G , LRG_391:g.200291A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000342992.11:c.34108A>G | ENSP00000343764.6:p.Met11370Val | |
| ENST00000342175.11:c.15193A>G | ENSP00000340554.6:p.Met5065Val | |
| ENST00000359218.10:c.14992A>G | ENSP00000352154.5:p.Met4998Val | |
| ENST00000342175.10:c.15193A>G | ENSP00000340554.6:p.Met5065Val | |
| ENST00000342992.10:c.34108A>G | ENSP00000343764.6:p.Met11370Val | |
| ENST00000359218.9:c.14992A>G | ENSP00000352154.5:p.Met4998Val | |
| ENST00000460472.6:c.14617A>G | ENSP00000434586.1:p.Met4873Val | |
| ENST00000589042.5:c.41812A>G MANE Select | ENSP00000467141.1:p.Met13938Val | |
| ENST00000591111.5:c.36889A>G | ENSP00000465570.1:p.Met12297Val | |
| ENST00000615779.4:c.36889A>G | ENSP00000483597.1:p.Met12297Val | |
| NM_001256850.1:c.36889A>G | NP_001243779.1:p.Met12297Val | |
| NM_001267550.2:c.41812A>G MANE Select | NP_001254479.2:p.Met13938Val | |
| NM_003319.4:c.14617A>G | NP_003310.4:p.Met4873Val | |
| NM_133378.4:c.34108A>G | NP_596869.4:p.Met11370Val | |
| NM_133432.3:c.14992A>G | NP_597676.3:p.Met4998Val | |
| NM_133437.4:c.15193A>G | NP_597681.4:p.Met5065Val | |
| XM_011511729.1:c.40909A>G | XP_011510031.1:p.Met13637Val | |
| XM_011511730.1:c.14803A>G | XP_011510032.1:p.Met4935Val | |
| XM_011511731.1:c.14662A>G | XP_011510033.1:p.Met4888Val | |
| XM_017004819.1:c.40705A>G | XP_016860308.1:p.Met13569Val | |
| XM_017004820.1:c.36103A>G | XP_016860309.1:p.Met12035Val | |
| XM_017004821.1:c.36100A>G | XP_016860310.1:p.Met12034Val | |
| XM_017004822.1:c.33142A>G | XP_016860311.1:p.Met11048Val | |
| XM_017004823.1:c.14758A>G | XP_016860312.1:p.Met4920Val | |
| XM_024453094.1:c.36253A>G | XP_024308862.1:p.Met12085Val | |
| XM_024453095.1:c.36250A>G | XP_024308863.1:p.Met12084Val | |
| XM_024453096.1:c.35683A>G | XP_024308864.1:p.Met11895Val | |
| XM_024453097.1:c.33025A>G | XP_024308865.1:p.Met11009Val | |
| XM_024453098.1:c.32944A>G | XP_024308866.1:p.Met10982Val | |
| XM_024453099.1:c.14707A>G | XP_024308867.1:p.Met4903Val | |
| XM_024453100.1:c.4561A>G | XP_024308868.1:p.Met1521Val |