Linked Data
ClinVar Variation Id:
2250136
ClinVar RCV Id:
RCV004113342
dbSNP Id:
rs2048681637
gnomAD v4:
X-151176776-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.151176776C>T , CM000685.2:g.151176776C>T | GRCh38 |
| NC_000023.10:g.150345248C>T , CM000685.1:g.150345248C>T | GRCh37 |
| NC_000023.9:g.150095906C>T | NCBI36 |
| NG_016405.1:g.5193C>T | |
| NG_016405.2:g.5193C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000218316.4:c.55C>T (GPR50) MANE Select | ENSP00000218316.3:p.Pro19Ser | |
| ENST00000218316.3:c.55C>T (GPR50) | ENSP00000218316.3:p.Pro19Ser | |
| ENST00000617907.1:c.55C>T (GPR50) | ENSP00000484496.1:p.Pro19Ser | |
| NM_004224.3:c.55C>T (GPR50) MANE Select | NP_004215.2:p.Pro19Ser | |
| NR_135300.1:n.541+19G>A (GPR50-AS1) |