Linked Data
ClinVar Variation Id:
46986
dbSNP Id:
rs397517580
gnomAD v3:
2-178621517-G-A
gnomAD v4:
2-178621517-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178621517G>A , CM000664.2:g.178621517G>A | GRCh38 |
| NC_000002.11:g.179486244G>A , CM000664.1:g.179486244G>A | GRCh37 |
| NC_000002.10:g.179194489G>A | NCBI36 |
| NG_011618.3:g.214286C>T , LRG_391:g.214286C>T | |
| NG_051363.1:g.103691G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.37603C>T | ENSP00000343764.6:p.Arg12535Ter | |
| ENST00000342175.11:c.18688C>T | ENSP00000340554.6:p.Arg6230Ter | |
| ENST00000359218.10:c.18487C>T | ENSP00000352154.5:p.Arg6163Ter | |
| ENST00000342175.10:c.18688C>T | ENSP00000340554.6:p.Arg6230Ter | |
| ENST00000342992.10:c.37603C>T | ENSP00000343764.6:p.Arg12535Ter | |
| ENST00000359218.9:c.18487C>T | ENSP00000352154.5:p.Arg6163Ter | |
| ENST00000460472.6:c.18112C>T | ENSP00000434586.1:p.Arg6038Ter | |
| ENST00000589042.5:c.45307C>T MANE Select | ENSP00000467141.1:p.Arg15103Ter | |
| ENST00000591111.5:c.40384C>T | ENSP00000465570.1:p.Arg13462Ter | |
| ENST00000615779.4:c.40384C>T | ENSP00000483597.1:p.Arg13462Ter | |
| NM_001256850.1:c.40384C>T | NP_001243779.1:p.Arg13462Ter | |
| NM_001267550.2:c.45307C>T MANE Select | NP_001254479.2:p.Arg15103Ter | |
| NM_003319.4:c.18112C>T | NP_003310.4:p.Arg6038Ter | |
| NM_133378.4:c.37603C>T | NP_596869.4:p.Arg12535Ter | |
| NM_133432.3:c.18487C>T | NP_597676.3:p.Arg6163Ter | |
| NM_133437.4:c.18688C>T | NP_597681.4:p.Arg6230Ter | |
| XM_011511729.1:c.44404C>T | XP_011510031.1:p.Arg14802Ter | |
| XM_011511730.1:c.18298C>T | XP_011510032.1:p.Arg6100Ter | |
| XM_011511731.1:c.18157C>T | XP_011510033.1:p.Arg6053Ter | |
| XM_017004819.1:c.44200C>T | XP_016860308.1:p.Arg14734Ter | |
| XM_017004820.1:c.39598C>T | XP_016860309.1:p.Arg13200Ter | |
| XM_017004821.1:c.39595C>T | XP_016860310.1:p.Arg13199Ter | |
| XM_017004822.1:c.36637C>T | XP_016860311.1:p.Arg12213Ter | |
| XM_017004823.1:c.18253C>T | XP_016860312.1:p.Arg6085Ter | |
| XM_024453094.1:c.39748C>T | XP_024308862.1:p.Arg13250Ter | |
| XM_024453095.1:c.39745C>T | XP_024308863.1:p.Arg13249Ter | |
| XM_024453096.1:c.39178C>T | XP_024308864.1:p.Arg13060Ter | |
| XM_024453097.1:c.36520C>T | XP_024308865.1:p.Arg12174Ter | |
| XM_024453098.1:c.36439C>T | XP_024308866.1:p.Arg12147Ter | |
| XM_024453099.1:c.18202C>T | XP_024308867.1:p.Arg6068Ter | |
| XM_024453100.1:c.8056C>T | XP_024308868.1:p.Arg2686Ter |