Linked Data
ClinVar Variation Id:
2634122
ClinVar RCV Id:
RCV004531670
dbSNP Id:
rs201438798
ExAC:
20:57415573 G / A
gnomAD v2:
20-57415573-G-A
gnomAD v3:
20-58840518-G-A
gnomAD v4:
20-58840518-G-A
COSMIC:
COSM4385145
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.58840518G>A , CM000682.2:g.58840518G>A | GRCh38 |
| NC_000020.10:g.57415573G>A , CM000682.1:g.57415573G>A | GRCh37 |
| NC_000020.9:g.56848968G>A | NCBI36 |
| NG_016194.1:g.5779G>A | |
| NG_021433.1:g.15386C>T | |
| NG_016194.2:g.5779G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000419558.7:c.412G>A (GNAS) | ENSP00000416234.2:p.Glu138Lys | |
| ENST00000453292.7:c.412G>A (GNAS) | ENSP00000392000.2:p.Glu138Lys | |
| ENST00000419558.6:c.412G>A (GNAS) | ENSP00000416234.2:p.Glu138Lys | |
| ENST00000453292.6:c.412G>A (GNAS) | ENSP00000392000.2:p.Glu138Lys | |
| ENST00000657090.1:c.-39+578G>A (GNAS) | ENSP00000499380.1:n.-39+578G>A | |
| ENST00000667293.1:c.-27-332G>A (GNAS) | ENSP00000499293.1:n.-27-332G>A | |
| ENST00000313949.11:c.412G>A (GNAS) | ENSP00000323571.7:p.Glu138Lys | |
| ENST00000371075.7:c.412G>A (GNAS) MANE Plus Clinical | ENSP00000360115.3:p.Glu138Lys | |
| ENST00000371098.6:c.412G>A (GNAS) | ENSP00000360139.2:p.Glu138Lys | |
| ENST00000419558.5:c.15G>A (GNAS) | ||
| ENST00000453292.5:c.175G>A (GNAS) | ENSP00000392000.1:p.Glu59Lys | |
| NM_016592.2:c.412G>A (GNAS) | NP_057676.1:p.Glu138Lys | |
| NM_016592.3:c.412G>A (GNAS) | NP_057676.1:p.Glu138Lys | |
| NR_002785.2:n.819+1419C>T (GNAS-AS1) | ||
| XM_017027821.1:c.412G>A (GNAS) | XP_016883310.1:p.Glu138Lys | |
| XM_017027822.1:c.412G>A (GNAS) | XP_016883311.1:p.Glu138Lys | |
| XM_024451872.1:c.-326G>A (GNAS) | XP_024307640.1:n.-326G>A | |
| NM_016592.4:c.412G>A (GNAS) | NP_057676.1:p.Glu138Lys | |
| NM_016592.5:c.412G>A (GNAS) MANE Plus Clinical | NP_057676.1:p.Glu138Lys |