Linked Data
ClinVar Variation Id:
404655
dbSNP Id:
rs1060500405
gnomAD v3:
2-178621502-G-A
gnomAD v4:
2-178621502-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178621502G>A , CM000664.2:g.178621502G>A | GRCh38 |
| NC_000002.11:g.179486229G>A , CM000664.1:g.179486229G>A | GRCh37 |
| NC_000002.10:g.179194474G>A | NCBI36 |
| NG_011618.3:g.214301C>T , LRG_391:g.214301C>T | |
| NG_051363.1:g.103676G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.37618C>T | ENSP00000343764.6:p.Arg12540Ter | |
| ENST00000342175.11:c.18703C>T | ENSP00000340554.6:p.Arg6235Ter | |
| ENST00000359218.10:c.18502C>T | ENSP00000352154.5:p.Arg6168Ter | |
| ENST00000342175.10:c.18703C>T | ENSP00000340554.6:p.Arg6235Ter | |
| ENST00000342992.10:c.37618C>T | ENSP00000343764.6:p.Arg12540Ter | |
| ENST00000359218.9:c.18502C>T | ENSP00000352154.5:p.Arg6168Ter | |
| ENST00000460472.6:c.18127C>T | ENSP00000434586.1:p.Arg6043Ter | |
| ENST00000589042.5:c.45322C>T MANE Select | ENSP00000467141.1:p.Arg15108Ter | |
| ENST00000591111.5:c.40399C>T | ENSP00000465570.1:p.Arg13467Ter | |
| ENST00000615779.4:c.40399C>T | ENSP00000483597.1:p.Arg13467Ter | |
| NM_001256850.1:c.40399C>T | NP_001243779.1:p.Arg13467Ter | |
| NM_001267550.2:c.45322C>T MANE Select | NP_001254479.2:p.Arg15108Ter | |
| NM_003319.4:c.18127C>T | NP_003310.4:p.Arg6043Ter | |
| NM_133378.4:c.37618C>T | NP_596869.4:p.Arg12540Ter | |
| NM_133432.3:c.18502C>T | NP_597676.3:p.Arg6168Ter | |
| NM_133437.4:c.18703C>T | NP_597681.4:p.Arg6235Ter | |
| XM_011511729.1:c.44419C>T | XP_011510031.1:p.Arg14807Ter | |
| XM_011511730.1:c.18313C>T | XP_011510032.1:p.Arg6105Ter | |
| XM_011511731.1:c.18172C>T | XP_011510033.1:p.Arg6058Ter | |
| XM_017004819.1:c.44215C>T | XP_016860308.1:p.Arg14739Ter | |
| XM_017004820.1:c.39613C>T | XP_016860309.1:p.Arg13205Ter | |
| XM_017004821.1:c.39610C>T | XP_016860310.1:p.Arg13204Ter | |
| XM_017004822.1:c.36652C>T | XP_016860311.1:p.Arg12218Ter | |
| XM_017004823.1:c.18268C>T | XP_016860312.1:p.Arg6090Ter | |
| XM_024453094.1:c.39763C>T | XP_024308862.1:p.Arg13255Ter | |
| XM_024453095.1:c.39760C>T | XP_024308863.1:p.Arg13254Ter | |
| XM_024453096.1:c.39193C>T | XP_024308864.1:p.Arg13065Ter | |
| XM_024453097.1:c.36535C>T | XP_024308865.1:p.Arg12179Ter | |
| XM_024453098.1:c.36454C>T | XP_024308866.1:p.Arg12152Ter | |
| XM_024453099.1:c.18217C>T | XP_024308867.1:p.Arg6073Ter | |
| XM_024453100.1:c.8071C>T | XP_024308868.1:p.Arg2691Ter |