Linked Data
ClinVar Variation Id:
188300
dbSNP Id:
rs780175755
ExAC:
3:180377546 CAG / C
gnomAD v2:
3-180377546-CAG-C
gnomAD v3:
3-180659758-CAG-C
gnomAD v4:
3-180659758-CAG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.180659761_180659762del , CM000665.2:g.180659761_180659762del | GRCh38 |
| NC_000003.11:g.180377549_180377550del , CM000665.1:g.180377549_180377550del | GRCh37 |
| NC_000003.10:g.181860243_181860244del | NCBI36 |
| NG_029581.1:g.24736_24737del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000476379.6:c.526_527del MANE Select | ENSP00000417960.2:p.Leu176AlafsTer10 | |
| ENST00000650641.1:n.605_606del | ||
| ENST00000650889.1:n.698_699del | ||
| ENST00000651046.1:c.526_527del | ENSP00000499175.1:p.Leu176AlafsTer10 | |
| ENST00000651818.1:n.668_669del | ||
| ENST00000652024.1:n.617_618del | ||
| ENST00000652408.1:n.663_664del | ||
| ENST00000442201.6:c.526_527del | ENSP00000405708.2:p.Leu176AlafsTer10 | |
| ENST00000476379.5:c.526_527del | ENSP00000417960.1:p.Leu176AlafsTer10 | |
| NM_181426.1:c.526_527del | NP_852091.1:p.Leu176AlafsTer10 | |
| NM_181426.2:c.526_527del MANE Select | NP_852091.1:p.Leu176AlafsTer10 |