Linked Data
dbSNP Id:
rs1449135586
gnomAD v2:
20-57415646-G-A
gnomAD v3:
20-58840591-G-A
gnomAD v4:
20-58840591-G-A
COSMIC:
COSM4687407
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.58840591G>A , CM000682.2:g.58840591G>A | GRCh38 |
| NC_000020.10:g.57415646G>A , CM000682.1:g.57415646G>A | GRCh37 |
| NC_000020.9:g.56849041G>A | NCBI36 |
| NG_016194.1:g.5852G>A | |
| NG_021433.1:g.15313C>T | |
| NG_016194.2:g.5852G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000419558.7:c.485G>A (GNAS) | ENSP00000416234.2:p.Arg162His | |
| ENST00000453292.7:c.485G>A (GNAS) | ENSP00000392000.2:p.Arg162His | |
| ENST00000419558.6:c.485G>A (GNAS) | ENSP00000416234.2:p.Arg162His | |
| ENST00000453292.6:c.485G>A (GNAS) | ENSP00000392000.2:p.Arg162His | |
| ENST00000657090.1:c.-39+651G>A (GNAS) | ENSP00000499380.1:n.-39+651G>A | |
| ENST00000667293.1:c.-27-259G>A (GNAS) | ENSP00000499293.1:n.-27-259G>A | |
| ENST00000313949.11:c.485G>A (GNAS) | ENSP00000323571.7:p.Arg162His | |
| ENST00000371075.7:c.485G>A (GNAS) MANE Plus Clinical | ENSP00000360115.3:p.Arg162His | |
| ENST00000371098.6:c.485G>A (GNAS) | ENSP00000360139.2:p.Arg162His | |
| ENST00000419558.5:c.88G>A (GNAS) | ||
| ENST00000453292.5:c.248G>A (GNAS) | ENSP00000392000.1:p.Arg83His | |
| NM_016592.2:c.485G>A (GNAS) | NP_057676.1:p.Arg162His | |
| NM_016592.3:c.485G>A (GNAS) | NP_057676.1:p.Arg162His | |
| NR_002785.2:n.819+1346C>T (GNAS-AS1) | ||
| XM_017027821.1:c.485G>A (GNAS) | XP_016883310.1:p.Arg162His | |
| XM_017027822.1:c.485G>A (GNAS) | XP_016883311.1:p.Arg162His | |
| XM_024451872.1:c.-253G>A (GNAS) | XP_024307640.1:n.-253G>A | |
| NM_016592.4:c.485G>A (GNAS) | NP_057676.1:p.Arg162His | |
| NM_016592.5:c.485G>A (GNAS) MANE Plus Clinical | NP_057676.1:p.Arg162His |