Linked Data
ClinVar Variation Id:
1945834
ClinVar RCV Id:
RCV002643563
dbSNP Id:
rs9724625
gnomAD v4:
1-114713991-AG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.114713994del , CM000663.2:g.114713994del | GRCh38 |
| NC_000001.10:g.115256615del , CM000663.1:g.115256615del | GRCh37 |
| NC_000001.9:g.115058138del | NCBI36 |
| NG_007572.1:g.7903del , LRG_92:g.7903del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369535.5:c.112-14del MANE Select | ENSP00000358548.4:n.112-14del | |
| ENST00000369535.4:c.112-14del | ENSP00000358548.4:n.112-14del | |
| NM_002524.4:c.112-14del | NP_002515.1:n.112-14del | |
| NM_002524.5:c.112-14del MANE Select | NP_002515.1:n.112-14del |