Linked Data
ClinVar Variation Id:
203458
ClinVar RCV Id:
RCV000185613
dbSNP Id:
rs794729671
PubMed:
PMID:23463024
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44352081dup , CM000679.2:g.44352081dup | GRCh38 |
| NC_000017.10:g.42429449dup , CM000679.1:g.42429449dup | GRCh37 |
| NC_000017.9:g.39784975dup | NCBI36 |
| NG_007886.1:g.11959dup , LRG_661:g.11959dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000053867.8:c.1246dup MANE Select | ENSP00000053867.2:p.Cys416LeufsTer30 | |
| ENST00000639447.1:c.1136+329dup | ENSP00000492014.1:n.1136+329dup | |
| ENST00000053867.7:c.1246dup | ENSP00000053867.2:p.Cys416LeufsTer30 | |
| ENST00000586443.1:c.687dup | ||
| ENST00000589265.5:c.775dup | ENSP00000467616.1:p.Cys259LeufsTer30 | |
| NM_002087.3:c.1246dup | NP_002078.1:p.Cys416LeufsTer30 | |
| XM_005257253.1:c.1246dup | XP_005257310.1:p.Cys416LeufsTer30 | |
| XM_024450730.1:c.1246dup | XP_024306498.1:p.Cys416LeufsTer30 | |
| NM_002087.4:c.1246dup MANE Select | NP_002078.1:p.Cys416LeufsTer30 |