Linked Data
ClinVar Variation Id:
11681
ClinVar RCV Id:
RCV000012447
dbSNP Id:
rs730882189
PubMed:
PMID:7581392
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.83509186_83509189del , CM000685.2:g.83509186_83509189del | GRCh38 |
| NC_000023.10:g.82764194_82764197del , CM000685.1:g.82764194_82764197del | GRCh37 |
| NC_000023.9:g.82650850_82650853del | NCBI36 |
| NG_009936.2:g.5926_5929del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644024.2:c.862_865del MANE Select | ENSP00000495996.1:p.Val289ArgfsTer? | |
| ENST00000373200.4:c.862_865del | ENSP00000362296.2:p.Val289ArgfsTer? | |
| NM_000307.4:c.862_865del | NP_000298.3:p.Val289ArgfsTer? | |
| NM_000307.5:c.862_865del MANE Select | NP_000298.3:p.Val289ArgfsTer? |