Linked Data
ClinVar Variation Id:
41457
ClinVar RCV Id:
RCV000034343
dbSNP Id:
rs398122516
PubMed:
PMID:23076972
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.83509274dup , CM000685.2:g.83509274dup | GRCh38 |
| NC_000023.10:g.82764282dup , CM000685.1:g.82764282dup | GRCh37 |
| NC_000023.9:g.82650938dup | NCBI36 |
| NG_009936.2:g.6014dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644024.2:c.950dup MANE Select | ENSP00000495996.1:p.Leu317PhefsTer12 | |
| ENST00000373200.4:c.950dup | ENSP00000362296.2:p.Leu317PhefsTer12 | |
| NM_000307.4:c.950dup | NP_000298.3:p.Leu317PhefsTer12 | |
| NM_000307.5:c.950dup MANE Select | NP_000298.3:p.Leu317PhefsTer12 |