Linked Data
dbSNP Id:
rs770616869
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.119320759dup , CM000666.2:g.119320759dup | GRCh38 |
| NC_000004.11:g.120241914dup , CM000666.1:g.120241914dup | GRCh37 |
| NC_000004.10:g.120461362dup | NCBI36 |
| NG_011444.1:g.6405dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000274024.4:c.153dup MANE Select | ENSP00000274024.3:p.Glu52ArgfsTer9 | |
| ENST00000274024.3:c.153dup | ENSP00000274024.3:p.Glu52ArgfsTer9 | |
| NM_000134.3:c.153dup | NP_000125.2:p.Glu52ArgfsTer9 | |
| NM_000134.4:c.153dup MANE Select | NP_000125.2:p.Glu52ArgfsTer9 |