Linked Data
dbSNP Id:
rs1809946118
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.16992848dup , CM000670.2:g.16992848dup | GRCh38 |
| NC_000008.10:g.16850357dup , CM000670.1:g.16850357dup | GRCh37 |
| NC_000008.9:g.16894728dup | NCBI36 |
| NG_015978.1:g.14319dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000180166.6:c.*225dup MANE Select | ENSP00000180166.5:n.*225dup | |
| ENST00000180166.5:c.*225dup | ENSP00000180166.5:n.*225dup | |
| NM_019851.2:c.*225dup | NP_062825.1:n.*225dup | |
| NM_019851.3:c.*225dup MANE Select | NP_062825.1:n.*225dup |