ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.141189513T>A , CM000667.2:g.141189513T>A | GRCh38 |
| NC_000005.9:g.140569086T>A , CM000667.1:g.140569086T>A | GRCh37 |
| NC_000005.8:g.140549270T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000316105.7:c.2195T>A (PCDHB9) MANE Select | ENSP00000478606.1:p.Phe732Tyr | |
| ENST00000316105.6:c.2195T>A (PCDHB9) | ENSP00000478606.1:p.Phe732Tyr | |
| ENST00000515856.4:c.454-375T>A (PCDHB10) | ENSP00000444518.3:n.454-375T>A | |
| NM_019119.4:c.2195T>A (PCDHB9) | NP_061992.3:p.Phe732Tyr | |
| NM_019119.5:c.2195T>A (PCDHB9) MANE Select | NP_061992.3:p.Phe732Tyr |