Linked Data
ClinVar Variation Id:
422892
dbSNP Id:
rs781483247
ExAC:
12:49578791 CT / C
gnomAD v2:
12-49578791-CT-C
gnomAD v3:
12-49185008-CT-C
gnomAD v4:
12-49185008-CT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.49185011del , CM000674.2:g.49185011del | GRCh38 |
| NC_000012.11:g.49578794del , CM000674.1:g.49578794del | GRCh37 |
| NC_000012.10:g.47865061del | NCBI36 |
| NG_008966.1:g.9070del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301071.12:c.*1del MANE Select | ENSP00000301071.7:n.*1del | |
| ENST00000547939.6:c.*1del | ENSP00000450268.2:n.*1del | |
| ENST00000550767.6:c.*1del | ENSP00000446637.1:n.*1del | |
| ENST00000550811.2:n.2390del | ||
| ENST00000552924.2:c.*1del | ENSP00000448725.2:n.*1del | |
| ENST00000679733.1:c.*813del | ENSP00000505459.1:n.*813del | |
| ENST00000295766.9:c.*1del | ENSP00000439020.2:n.*1del | |
| ENST00000301071.11:c.*1del | ENSP00000301071.7:n.*1del | |
| NM_001270399.1:c.*1del | NP_001257328.1:n.*1del | |
| NM_001270400.1:c.*1del | NP_001257329.1:n.*1del | |
| NM_006009.3:c.*1del | NP_006000.2:n.*1del | |
| NM_006009.4:c.*1del MANE Select | NP_006000.2:n.*1del | |
| NM_001270399.2:c.*1del | NP_001257328.1:n.*1del | |
| NM_001270400.2:c.*1del | NP_001257329.1:n.*1del |