Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.141951521T>G , CM000667.2:g.141951521T>G | GRCh38 |
| NC_000005.9:g.141331086T>G , CM000667.1:g.141331086T>G | GRCh37 |
| NC_000005.8:g.141311270T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000231484.4:c.2950A>C (PCDH12) MANE Select | ENSP00000231484.3:p.Lys984Gln | |
| ENST00000231484.3:c.2950A>C (PCDH12) | ENSP00000231484.3:p.Lys984Gln | |
| NM_016580.3:c.2950A>C (PCDH12) | NP_057664.1:p.Lys984Gln | |
| XM_024446106.1:c.2950A>C (PCDH12) | XP_024301874.1:p.Lys984Gln | |
| XM_024446274.1:c.*130T>G (DELE1) | XP_024302042.1:n.*130T>G | |
| NM_016580.4:c.2950A>C (PCDH12) MANE Select | NP_057664.1:p.Lys984Gln |