Linked Data
dbSNP Id:
rs146327704
gnomAD v3:
3-129530506-A-AACACACACAC
gnomAD v4:
3-129530506-A-AACACACACAC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.129530524_129530533dup , CM000665.2:g.129530524_129530533dup | GRCh38 |
| NC_000003.11:g.129249367_129249376dup , CM000665.1:g.129249367_129249376dup | GRCh37 |
| NC_000003.10:g.130732057_130732066dup | NCBI36 |
| NG_009115.1:g.6886_6895dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296271.4:c.362-352_362-343dup MANE Select | ENSP00000296271.3:n.362-352_362-343dup | |
| ENST00000296271.3:c.362-352_362-343dup | ENSP00000296271.3:n.362-352_362-343dup | |
| NM_000539.3:c.362-352_362-343dup MANE Select | NP_000530.1:n.362-352_362-343dup |