Linked Data
dbSNP Id:
rs1750373156
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.20888234dup , CM000684.2:g.20888234dup | GRCh38 |
| NC_000022.10:g.21242522dup , CM000684.1:g.21242522dup | GRCh37 |
| NC_000022.9:g.19572522dup | NCBI36 |
| NG_012152.1:g.34231dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000215730.12:c.*398dup MANE Select | ENSP00000215730.6:n.*398dup | |
| ENST00000215730.11:c.*398dup | ENSP00000215730.6:n.*398dup | |
| NM_004782.3:c.*398dup | NP_004773.1:n.*398dup | |
| NM_004782.4:c.*398dup MANE Select | NP_004773.1:n.*398dup |