gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0000324 (AMR)
Genomes Max Group AF
0.00003241 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.151177387C>G , CM000685.2:g.151177387C>G | GRCh38 |
| NC_000023.10:g.150345859C>G , CM000685.1:g.150345859C>G | GRCh37 |
| NC_000023.9:g.150096517C>G | NCBI36 |
| NG_016405.1:g.5804C>G | |
| NG_016405.2:g.5804C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000218316.4:c.187+479C>G (GPR50) MANE Select | ENSP00000218316.3:n.187+479C>G | |
| ENST00000218316.3:c.187+479C>G (GPR50) | ENSP00000218316.3:n.187+479C>G | |
| ENST00000617907.1:c.187+479C>G (GPR50) | ENSP00000484496.1:n.187+479C>G | |
| NM_004224.3:c.187+479C>G (GPR50) MANE Select | NP_004215.2:n.187+479C>G | |
| NR_135300.1:n.450G>C (GPR50-AS1) |