Linked Data
dbSNP Id:
rs35875551
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32220767_32220768insA , CM000668.2:g.32220767_32220768insA | GRCh38 |
| NC_000006.11:g.32188544_32188545insA , CM000668.1:g.32188544_32188545insA | GRCh37 |
| NC_000006.10:g.32296522_32296523insA | NCBI36 |
| NG_028190.1:g.8300_8301insT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375023.3:c.910_911insT MANE Select | ENSP00000364163.3:p.Glu304ValfsTer14 | |
| ENST00000473562.1:n.1039_1040insT | ||
| NM_004557.3:c.910_911insT | NP_004548.3:p.Glu304ValfsTer14 | |
| NR_134949.1:n.1049_1050insT | ||
| NR_134950.1:n.1049_1050insT | ||
| NM_004557.4:c.910_911insT MANE Select | NP_004548.3:p.Glu304ValfsTer14 | |
| NR_134949.2:n.1049_1050insT | ||
| NR_134950.2:n.1049_1050insT |