Linked Data
dbSNP Id:
rs1876848410
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.65964409dup , CM000674.2:g.65964409dup | GRCh38 |
| NC_000012.11:g.66358189dup , CM000674.1:g.66358189dup | GRCh37 |
| NC_000012.10:g.64644456dup | NCBI36 |
| NG_016296.1:g.144950dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000403681.7:c.*1117dup MANE Select | ENSP00000384026.2:n.*1117dup | |
| ENST00000403681.6:c.*1117dup | ENSP00000384026.2:n.*1117dup | |
| NM_003483.4:c.*1117dup | NP_003474.1:n.*1117dup | |
| NM_003483.6:c.*1117dup MANE Select | NP_003474.1:n.*1117dup |