Linked Data
ClinVar Variation Id:
178865
dbSNP Id:
rs727504499
gnomAD v2:
2-179497021-G-A
gnomAD v3:
2-178632294-G-A
gnomAD v4:
2-178632294-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178632294G>A , CM000664.2:g.178632294G>A | GRCh38 |
| NC_000002.11:g.179497021G>A , CM000664.1:g.179497021G>A | GRCh37 |
| NC_000002.10:g.179205266G>A | NCBI36 |
| NG_011618.3:g.203509C>T , LRG_391:g.203509C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.35896C>T | ENSP00000343764.6:p.Gln11966Ter | |
| ENST00000342175.11:c.16981C>T | ENSP00000340554.6:p.Gln5661Ter | |
| ENST00000359218.10:c.16780C>T | ENSP00000352154.5:p.Gln5594Ter | |
| ENST00000342175.10:c.16981C>T | ENSP00000340554.6:p.Gln5661Ter | |
| ENST00000342992.10:c.35896C>T | ENSP00000343764.6:p.Gln11966Ter | |
| ENST00000359218.9:c.16780C>T | ENSP00000352154.5:p.Gln5594Ter | |
| ENST00000460472.6:c.16405C>T | ENSP00000434586.1:p.Gln5469Ter | |
| ENST00000589042.5:c.43600C>T MANE Select | ENSP00000467141.1:p.Gln14534Ter | |
| ENST00000591111.5:c.38677C>T | ENSP00000465570.1:p.Gln12893Ter | |
| ENST00000615779.4:c.38677C>T | ENSP00000483597.1:p.Gln12893Ter | |
| NM_001256850.1:c.38677C>T | NP_001243779.1:p.Gln12893Ter | |
| NM_001267550.2:c.43600C>T MANE Select | NP_001254479.2:p.Gln14534Ter | |
| NM_003319.4:c.16405C>T | NP_003310.4:p.Gln5469Ter | |
| NM_133378.4:c.35896C>T | NP_596869.4:p.Gln11966Ter | |
| NM_133432.3:c.16780C>T | NP_597676.3:p.Gln5594Ter | |
| NM_133437.4:c.16981C>T | NP_597681.4:p.Gln5661Ter | |
| XM_011511729.1:c.42697C>T | XP_011510031.1:p.Gln14233Ter | |
| XM_011511730.1:c.16591C>T | XP_011510032.1:p.Gln5531Ter | |
| XM_011511731.1:c.16450C>T | XP_011510033.1:p.Gln5484Ter | |
| XM_017004819.1:c.42493C>T | XP_016860308.1:p.Gln14165Ter | |
| XM_017004820.1:c.37891C>T | XP_016860309.1:p.Gln12631Ter | |
| XM_017004821.1:c.37888C>T | XP_016860310.1:p.Gln12630Ter | |
| XM_017004822.1:c.34930C>T | XP_016860311.1:p.Gln11644Ter | |
| XM_017004823.1:c.16546C>T | XP_016860312.1:p.Gln5516Ter | |
| XM_024453094.1:c.38041C>T | XP_024308862.1:p.Gln12681Ter | |
| XM_024453095.1:c.38038C>T | XP_024308863.1:p.Gln12680Ter | |
| XM_024453096.1:c.37471C>T | XP_024308864.1:p.Gln12491Ter | |
| XM_024453097.1:c.34813C>T | XP_024308865.1:p.Gln11605Ter | |
| XM_024453098.1:c.34732C>T | XP_024308866.1:p.Gln11578Ter | |
| XM_024453099.1:c.16495C>T | XP_024308867.1:p.Gln5499Ter | |
| XM_024453100.1:c.6349C>T | XP_024308868.1:p.Gln2117Ter |