Linked Data
dbSNP Id:
rs1713850643
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.24800256dup , CM000666.2:g.24800256dup | GRCh38 |
| NC_000004.11:g.24801878dup , CM000666.1:g.24801878dup | GRCh37 |
| NC_000004.10:g.24410976dup | NCBI36 |
| NG_012213.1:g.9794dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382120.4:c.*12dup MANE Select | ENSP00000371554.3:n.*12dup | |
| ENST00000382120.3:c.*12dup | ENSP00000371554.3:n.*12dup | |
| NM_003102.2:c.*12dup | NP_003093.2:n.*12dup | |
| XR_427488.1:n.925dup | ||
| NM_003102.3:c.*12dup | NP_003093.2:n.*12dup | |
| NM_003102.4:c.*12dup MANE Select | NP_003093.2:n.*12dup |