Linked Data
dbSNP Id:
rs1847927360
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5249947_5249948insTCACTGGATACTCTAAGACAA , CM000673.2:g.5249947_5249948insTCACTGGATACTCTAAGACAA | GRCh38 |
| NC_000011.9:g.5271177_5271178insTCACTGGATACTCTAAGACAA , CM000673.1:g.5271177_5271178insTCACTGGATACTCTAAGACAA | GRCh37 |
| NC_000011.8:g.5227753_5227754insTCACTGGATACTCTAAGACAA | NCBI36 |
| NG_000007.3:g.47668_47669insTTGTCTTAGAGTATCCAGTGA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000642908.1:c.316-1461_316-1460insTTGTCTTAGAGTATCCAGTGA | ENSP00000495346.1:n.316-1461_316-1460insTTGTCTTAGAGTATCCAGTGA... | |
| ENST00000647543.1:c.379-1461_379-1460insTTGTCTTAGAGTATCCAGTGA | ENSP00000496470.1:n.379-1461_379-1460insTTGTCTTAGAGTATCCAGTGA... | |
| ENST00000620888.4:c.316-1461_316-1460insTTGTCTTAGAGTATCCAGTGA | ENSP00000479637.1:n.316-1461_316-1460insTTGTCTTAGAGTATCCAGTGA... |