Linked Data
ClinVar Variation Id:
202364
dbSNP Id:
rs794729258
gnomAD v2:
2-179499294-G-A
gnomAD v3:
2-178634567-G-A
gnomAD v4:
2-178634567-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178634567G>A , CM000664.2:g.178634567G>A | GRCh38 |
| NC_000002.11:g.179499294G>A , CM000664.1:g.179499294G>A | GRCh37 |
| NC_000002.10:g.179207539G>A | NCBI36 |
| NG_011618.3:g.201236C>T , LRG_391:g.201236C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.34510C>T | ENSP00000343764.6:p.Arg11504Ter | |
| ENST00000342175.11:c.15595C>T | ENSP00000340554.6:p.Arg5199Ter | |
| ENST00000359218.10:c.15394C>T | ENSP00000352154.5:p.Arg5132Ter | |
| ENST00000342175.10:c.15595C>T | ENSP00000340554.6:p.Arg5199Ter | |
| ENST00000342992.10:c.34510C>T | ENSP00000343764.6:p.Arg11504Ter | |
| ENST00000359218.9:c.15394C>T | ENSP00000352154.5:p.Arg5132Ter | |
| ENST00000460472.6:c.15019C>T | ENSP00000434586.1:p.Arg5007Ter | |
| ENST00000589042.5:c.42214C>T MANE Select | ENSP00000467141.1:p.Arg14072Ter | |
| ENST00000591111.5:c.37291C>T | ENSP00000465570.1:p.Arg12431Ter | |
| ENST00000615779.4:c.37291C>T | ENSP00000483597.1:p.Arg12431Ter | |
| NM_001256850.1:c.37291C>T | NP_001243779.1:p.Arg12431Ter | |
| NM_001267550.2:c.42214C>T MANE Select | NP_001254479.2:p.Arg14072Ter | |
| NM_003319.4:c.15019C>T | NP_003310.4:p.Arg5007Ter | |
| NM_133378.4:c.34510C>T | NP_596869.4:p.Arg11504Ter | |
| NM_133432.3:c.15394C>T | NP_597676.3:p.Arg5132Ter | |
| NM_133437.4:c.15595C>T | NP_597681.4:p.Arg5199Ter | |
| XM_011511729.1:c.41311C>T | XP_011510031.1:p.Arg13771Ter | |
| XM_011511730.1:c.15205C>T | XP_011510032.1:p.Arg5069Ter | |
| XM_011511731.1:c.15064C>T | XP_011510033.1:p.Arg5022Ter | |
| XM_017004819.1:c.41107C>T | XP_016860308.1:p.Arg13703Ter | |
| XM_017004820.1:c.36505C>T | XP_016860309.1:p.Arg12169Ter | |
| XM_017004821.1:c.36502C>T | XP_016860310.1:p.Arg12168Ter | |
| XM_017004822.1:c.33544C>T | XP_016860311.1:p.Arg11182Ter | |
| XM_017004823.1:c.15160C>T | XP_016860312.1:p.Arg5054Ter | |
| XM_024453094.1:c.36655C>T | XP_024308862.1:p.Arg12219Ter | |
| XM_024453095.1:c.36652C>T | XP_024308863.1:p.Arg12218Ter | |
| XM_024453096.1:c.36085C>T | XP_024308864.1:p.Arg12029Ter | |
| XM_024453097.1:c.33427C>T | XP_024308865.1:p.Arg11143Ter | |
| XM_024453098.1:c.33346C>T | XP_024308866.1:p.Arg11116Ter | |
| XM_024453099.1:c.15109C>T | XP_024308867.1:p.Arg5037Ter | |
| XM_024453100.1:c.4963C>T | XP_024308868.1:p.Arg1655Ter |