Linked Data
ClinVar Variation Id:
161667
ClinVar RCV Id:
RCV000149203
dbSNP Id:
rs193920928
COSMIC:
COSM1180167
PubMed:
PMID:23265383
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.141053125T>C , CM000667.2:g.141053125T>C | GRCh38 |
| NC_000005.9:g.140432710T>C , CM000667.1:g.140432710T>C | GRCh37 |
| NC_000005.8:g.140412894T>C | NCBI36 |
| NG_050759.1:g.6750T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000306549.6:c.1655T>C (PCDHB1) MANE Select | ENSP00000307234.4:p.Val552Ala | |
| ENST00000306549.5:c.1655T>C (PCDHB1) | ENSP00000307234.3:p.Val552Ala | |
| NM_013340.3:c.1655T>C (PCDHB1) | NP_037472.2:p.Val552Ala | |
| NR_105056.2:n.357-1955A>G (PCDHB1-AS1) | ||
| NM_013340.4:c.1655T>C (PCDHB1) MANE Select | NP_037472.2:p.Val552Ala |