Linked Data
dbSNP Id:
rs2092287818
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.149884912_149884925dup , CM000663.2:g.149884912_149884925dup | GRCh38 |
| NC_000001.10:g.149856462_149856475dup , CM000663.1:g.149856462_149856475dup | GRCh37 |
| NC_000001.9:g.148123086_148123099dup | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369155.4:c.*1342_*1355dup MANE Select | ENSP00000358151.2:n.*1342_*1355dup | |
| ENST00000369155.3:c.*1342_*1355dup | ENSP00000358151.2:n.*1342_*1355dup | |
| ENST00000369160.3:c.377+1346_377+1359dup | ENSP00000375736.2:n.377+1346_377+1359dup | |
| NM_003528.2:c.*1342_*1355dup | NP_003519.1:n.*1342_*1355dup | |
| NM_003528.3:c.*1342_*1355dup MANE Select | NP_003519.1:n.*1342_*1355dup |