Linked Data
dbSNP Id:
rs1011477724
gnomAD v2:
3-129249377-AC-A
gnomAD v3:
3-129530534-AC-A
gnomAD v4:
3-129530534-AC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.129530535del , CM000665.2:g.129530535del | GRCh38 |
| NC_000003.11:g.129249378del , CM000665.1:g.129249378del | GRCh37 |
| NC_000003.10:g.130732068del | NCBI36 |
| NG_009115.1:g.6897del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296271.4:c.362-341del MANE Select | ENSP00000296271.3:n.362-341del | |
| ENST00000296271.3:c.362-341del | ENSP00000296271.3:n.362-341del | |
| NM_000539.3:c.362-341del MANE Select | NP_000530.1:n.362-341del |