Linked Data
dbSNP Id:
rs79709641
gnomAD v2:
20-57415841-G-A
gnomAD v4:
20-58840786-G-A
COSMIC:
COSM5565067
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.58840786G>A , CM000682.2:g.58840786G>A | GRCh38 |
| NC_000020.10:g.57415841G>A , CM000682.1:g.57415841G>A | GRCh37 |
| NC_000020.9:g.56849236G>A | NCBI36 |
| NG_016194.1:g.6047G>A | |
| NG_021433.1:g.15118C>T | |
| NG_016194.2:g.6047G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000419558.7:c.680G>A (GNAS) | ENSP00000416234.2:p.Arg227His | |
| ENST00000453292.7:c.680G>A (GNAS) | ENSP00000392000.2:p.Arg227His | |
| ENST00000419558.6:c.680G>A (GNAS) | ENSP00000416234.2:p.Arg227His | |
| ENST00000453292.6:c.680G>A (GNAS) | ENSP00000392000.2:p.Arg227His | |
| ENST00000657090.1:c.-39+846G>A (GNAS) | ENSP00000499380.1:n.-39+846G>A | |
| ENST00000667293.1:c.-27-64G>A (GNAS) | ENSP00000499293.1:n.-27-64G>A | |
| ENST00000313949.11:c.680G>A (GNAS) | ENSP00000323571.7:p.Arg227His | |
| ENST00000371075.7:c.680G>A (GNAS) MANE Plus Clinical | ENSP00000360115.3:p.Arg227His | |
| ENST00000371098.6:c.680G>A (GNAS) | ENSP00000360139.2:p.Arg227His | |
| ENST00000419558.5:c.283G>A (GNAS) | ||
| ENST00000453292.5:c.443G>A (GNAS) | ENSP00000392000.1:p.Arg148His | |
| NM_016592.2:c.680G>A (GNAS) | NP_057676.1:p.Arg227His | |
| NM_016592.3:c.680G>A (GNAS) | NP_057676.1:p.Arg227His | |
| NR_002785.2:n.819+1151C>T (GNAS-AS1) | ||
| XM_017027821.1:c.680G>A (GNAS) | XP_016883310.1:p.Arg227His | |
| XM_017027822.1:c.680G>A (GNAS) | XP_016883311.1:p.Arg227His | |
| XM_024451872.1:c.-58G>A (GNAS) | XP_024307640.1:n.-58G>A | |
| NM_016592.4:c.680G>A (GNAS) | NP_057676.1:p.Arg227His | |
| NM_016592.5:c.680G>A (GNAS) MANE Plus Clinical | NP_057676.1:p.Arg227His |