Linked Data
ClinVar Variation Id:
1198859
ClinVar RCV Id:
RCV001563164
dbSNP Id:
rs1455756498
gnomAD v2:
20-57415850-C-T
gnomAD v3:
20-58840795-C-T
gnomAD v4:
20-58840795-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.58840795C>T , CM000682.2:g.58840795C>T | GRCh38 |
| NC_000020.10:g.57415850C>T , CM000682.1:g.57415850C>T | GRCh37 |
| NC_000020.9:g.56849245C>T | NCBI36 |
| NG_016194.1:g.6056C>T | |
| NG_021433.1:g.15109G>A | |
| NG_016194.2:g.6056C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000419558.7:c.689C>T (GNAS) | ENSP00000416234.2:p.Ser230Phe | |
| ENST00000453292.7:c.689C>T (GNAS) | ENSP00000392000.2:p.Ser230Phe | |
| ENST00000419558.6:c.689C>T (GNAS) | ENSP00000416234.2:p.Ser230Phe | |
| ENST00000453292.6:c.689C>T (GNAS) | ENSP00000392000.2:p.Ser230Phe | |
| ENST00000657090.1:c.-39+855C>T (GNAS) | ENSP00000499380.1:n.-39+855C>T | |
| ENST00000667293.1:c.-27-55C>T (GNAS) | ENSP00000499293.1:n.-27-55C>T | |
| ENST00000313949.11:c.689C>T (GNAS) | ENSP00000323571.7:p.Ser230Phe | |
| ENST00000371075.7:c.689C>T (GNAS) MANE Plus Clinical | ENSP00000360115.3:p.Ser230Phe | |
| ENST00000371098.6:c.689C>T (GNAS) | ENSP00000360139.2:p.Ser230Phe | |
| ENST00000419558.5:c.292C>T (GNAS) | ||
| ENST00000453292.5:c.452C>T (GNAS) | ENSP00000392000.1:p.Ser151Phe | |
| NM_016592.2:c.689C>T (GNAS) | NP_057676.1:p.Ser230Phe | |
| NM_016592.3:c.689C>T (GNAS) | NP_057676.1:p.Ser230Phe | |
| NR_002785.2:n.819+1142G>A (GNAS-AS1) | ||
| XM_017027821.1:c.689C>T (GNAS) | XP_016883310.1:p.Ser230Phe | |
| XM_017027822.1:c.689C>T (GNAS) | XP_016883311.1:p.Ser230Phe | |
| XM_024451872.1:c.-49C>T (GNAS) | XP_024307640.1:n.-49C>T | |
| NM_016592.4:c.689C>T (GNAS) | NP_057676.1:p.Ser230Phe | |
| NM_016592.5:c.689C>T (GNAS) MANE Plus Clinical | NP_057676.1:p.Ser230Phe |