Linked Data
ClinVar Variation Id:
293498
ClinVar RCV Id:
RCV000404640
dbSNP Id:
rs550552066
gnomAD v2:
1-168283347-T-TC
gnomAD v3:
1-168314109-T-TC
gnomAD v4:
1-168314109-T-TC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.168314111dup , CM000663.2:g.168314111dup | GRCh38 |
| NC_000001.10:g.168283349dup , CM000663.1:g.168283349dup | GRCh37 |
| NC_000001.9:g.166549973dup | NCBI36 |
| NG_008244.1:g.38072dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367821.8:c.*1109dup MANE Select | ENSP00000356795.3:n.*1109dup | |
| ENST00000367821.7:c.*1109dup | ENSP00000356795.3:n.*1109dup | |
| ENST00000431969.5:c.2064dup | ||
| ENST00000465440.1:n.2265dup | ||
| NM_005149.2:c.*1109dup | NP_005140.1:n.*1109dup | |
| NM_005149.3:c.*1109dup MANE Select | NP_005140.1:n.*1109dup |