Linked Data
ClinVar Variation Id:
17280
ClinVar RCV Id:
RCV000018821
dbSNP Id:
rs797044459
PubMed:
PMID:16816023
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.94404569dup , CM000669.2:g.94404569dup | GRCh38 |
| NC_000007.13:g.94033881dup , CM000669.1:g.94033881dup | GRCh37 |
| NC_000007.12:g.93871817dup | NCBI36 |
| NG_007405.1:g.15009dup , LRG_2:g.15009dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297268.11:c.293dup MANE Select | ENSP00000297268.6:p.Arg99Ter | |
| ENST00000297268.10:c.293dup | ENSP00000297268.6:p.Arg99Ter | |
| ENST00000620463.1:c.287dup | ENSP00000477719.1:p.Arg97Ter | |
| NM_000089.3:c.293dup , LRG_2t1:c.293dup | NP_000080.2:p.Arg99Ter | |
| NM_000089.4:c.293dup MANE Select | NP_000080.2:p.Arg99Ter |