Linked Data
ClinVar Variation Id:
958245
ClinVar RCV Id:
RCV001231371
dbSNP Id:
rs1478248064
gnomAD v2:
3-129247809-AC-A
gnomAD v3:
3-129528966-AC-A
gnomAD v4:
3-129528966-AC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.129528968del , CM000665.2:g.129528968del | GRCh38 |
| NC_000003.11:g.129247811del , CM000665.1:g.129247811del | GRCh37 |
| NC_000003.10:g.130730501del | NCBI36 |
| NG_009115.1:g.5330del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296271.4:c.235del MANE Select | ENSP00000296271.3:p.Leu79Ter | |
| ENST00000296271.3:c.235del | ENSP00000296271.3:p.Leu79Ter | |
| NM_000539.3:c.235del MANE Select | NP_000530.1:p.Leu79Ter |