Linked Data
dbSNP Id:
rs2092598760
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.149927579dup , CM000663.2:g.149927579dup | GRCh38 |
| NC_000001.10:g.149899471dup , CM000663.1:g.149899471dup | GRCh37 |
| NC_000001.9:g.148166095dup | NCBI36 |
| NG_032777.1:g.5674dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000271628.9:c.34+147dup MANE Select | ENSP00000271628.8:n.34+147dup | |
| ENST00000271628.8:c.34+147dup | ENSP00000271628.8:n.34+147dup | |
| ENST00000457312.1:c.-243dup | ENSP00000391114.1:n.-243dup | |
| NM_005850.4:c.34+147dup | NP_005841.1:n.34+147dup | |
| NM_005850.5:c.34+147dup MANE Select | NP_005841.1:n.34+147dup |