Linked Data
ClinVar Variation Id:
250926
ClinVar RCV Id:
RCV000238304
dbSNP Id:
rs879254359
gnomAD v4:
19-11089324-T-TA
PubMed:
PMID:12406975
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11089329dup , CM000681.2:g.11089329dup | GRCh38 |
| NC_000019.9:g.11200005dup , CM000681.1:g.11200005dup | GRCh37 |
| NC_000019.8:g.11061005dup | NCBI36 |
| NG_009060.1:g.4949dup , LRG_274:g.4949dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_163945.1:n.335dup |