Linked Data
ClinVar Variation Id:
330566
ClinVar RCV Id:
RCV000333004
dbSNP Id:
rs34057037
gnomAD v2:
19-8645320-A-AC
gnomAD v3:
19-8580436-A-AC
gnomAD v4:
19-8580436-A-AC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.8580446dup , CM000681.2:g.8580446dup | GRCh38 |
| NC_000019.9:g.8645330dup , CM000681.1:g.8645330dup | GRCh37 |
| NC_000019.8:g.8551330dup | NCBI36 |
| NG_011840.2:g.35266dup | |
| NG_052844.1:g.2011dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000597188.6:c.*456dup MANE Select | ENSP00000471851.1:n.*456dup | |
| ENST00000270328.8:c.*456dup | ENSP00000270328.4:n.*456dup | |
| ENST00000595838.5:c.*456dup | ENSP00000470501.1:n.*456dup | |
| NM_001282352.1:c.*456dup | NP_001269281.1:n.*456dup | |
| NM_030957.3:c.*456dup | NP_112219.3:n.*456dup | |
| XM_006722917.2:c.*456dup | XP_006722980.1:n.*456dup | |
| XM_011528331.1:c.*456dup | XP_011526633.1:n.*456dup | |
| XM_011528332.1:c.*456dup | XP_011526634.1:n.*456dup | |
| XM_011528333.1:c.*456dup | XP_011526635.1:n.*456dup | |
| XM_011528334.1:c.*456dup | XP_011526636.1:n.*456dup | |
| XM_011528335.1:c.*456dup | XP_011526637.1:n.*456dup | |
| XM_011528336.1:c.*456dup | XP_011526638.1:n.*456dup | |
| XM_006722917.3:c.*456dup | XP_006722980.1:n.*456dup | |
| XM_017027339.1:c.*456dup | XP_016882828.1:n.*456dup | |
| XM_017027340.1:c.*456dup | XP_016882829.1:n.*456dup | |
| NM_030957.4:c.*456dup MANE Select | NP_112219.3:n.*456dup | |
| NM_001282352.2:c.*456dup | NP_001269281.1:n.*456dup |