Linked Data
dbSNP Id:
rs569628261
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.223053597dup , CM000664.2:g.223053597dup | GRCh38 |
| NC_000002.11:g.223918315dup , CM000664.1:g.223918315dup | GRCh37 |
| NC_000002.10:g.223626559dup | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000281830.4:c.*254dup MANE Select | ENSP00000281830.5:n.*254dup | |
| ENST00000281830.3:c.*254dup | ENSP00000281830.4:n.*254dup | |
| ENST00000488477.2:n.75+1323dup | ||
| NM_080671.3:c.*254dup | NP_542402.3:n.*254dup | |
| NM_080671.4:c.*254dup MANE Select | NP_542402.4:n.*254dup |