Linked Data
ClinVar Variation Id:
195260
dbSNP Id:
rs778260177
ExAC:
6:132168997 GT / G
gnomAD v2:
6-132168997-GT-G
gnomAD v3:
6-131847857-GT-G
gnomAD v4:
6-131847857-GT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.131847858del , CM000668.2:g.131847858del | GRCh38 |
| NC_000006.11:g.132168998del , CM000668.1:g.132168998del | GRCh37 |
| NC_000006.10:g.132210691del | NCBI36 |
| NG_008206.1:g.44843del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647893.1:c.313+10del MANE Select | ENSP00000498074.1:n.313+10del | |
| ENST00000650507.1:c.320+10del | ENSP00000497375.1:n.320+10del | |
| ENST00000360971.6:c.313+10del | ENSP00000354238.2:n.313+10del | |
| ENST00000486853.1:n.333+10del | ||
| ENST00000513998.5:c.313+10del | ENSP00000422424.1:n.313+10del | |
| NM_006208.2:c.313+10del | NP_006199.2:n.313+10del | |
| NM_006208.3:c.313+10del MANE Select | NP_006199.2:n.313+10del |