Linked Data
dbSNP Id:
rs1923005329
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.50911067_50911068dup , CM000685.2:g.50911067_50911068dup | GRCh38 |
| NC_000023.10:g.50654067_50654068dup , CM000685.1:g.50654067_50654068dup | GRCh37 |
| NC_000023.9:g.50670807_50670808dup | NCBI36 |
| NG_012894.1:g.5284_5285dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252677.4:c.284_285dup MANE Select | ENSP00000252677.3:p.Arg96Ter | |
| ENST00000252677.3:c.284_285dup | ENSP00000252677.3:p.Arg96Ter | |
| NM_005448.2:c.284_285dup MANE Select | NP_005439.2:p.Arg96Ter |