Linked Data
dbSNP Id:
rs1408655246
gnomAD v3:
20-58840793-G-C
gnomAD v4:
20-58840793-G-C
MyVariant Identifiers:
chr20:g.57415848G>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.58840793G>C , CM000682.2:g.58840793G>C | GRCh38 |
| NC_000020.10:g.57415848G>C , CM000682.1:g.57415848G>C | GRCh37 |
| NC_000020.9:g.56849243G>C | NCBI36 |
| NG_016194.1:g.6054G>C | |
| NG_021433.1:g.15111C>G | |
| NG_016194.2:g.6054G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000419558.7:c.687G>C (GNAS) | ENSP00000416234.2:p.Ala229= | |
| ENST00000453292.7:c.687G>C (GNAS) | ENSP00000392000.2:p.Ala229= | |
| ENST00000419558.6:c.687G>C (GNAS) | ENSP00000416234.2:p.Ala229= | |
| ENST00000453292.6:c.687G>C (GNAS) | ENSP00000392000.2:p.Ala229= | |
| ENST00000657090.1:c.-39+853G>C (GNAS) | ENSP00000499380.1:n.-39+853G>C | |
| ENST00000667293.1:c.-27-57G>C (GNAS) | ENSP00000499293.1:n.-27-57G>C | |
| ENST00000313949.11:c.687G>C (GNAS) | ENSP00000323571.7:p.Ala229= | |
| ENST00000371075.7:c.687G>C (GNAS) MANE Plus Clinical | ENSP00000360115.3:p.Ala229= | |
| ENST00000371098.6:c.687G>C (GNAS) | ENSP00000360139.2:p.Ala229= | |
| ENST00000419558.5:c.290G>C (GNAS) | ||
| ENST00000453292.5:c.450G>C (GNAS) | ENSP00000392000.1:p.Ala150= | |
| NM_016592.2:c.687G>C (GNAS) | NP_057676.1:p.Ala229= | |
| NM_016592.3:c.687G>C (GNAS) | NP_057676.1:p.Ala229= | |
| NR_002785.2:n.819+1144C>G (GNAS-AS1) | ||
| XM_017027821.1:c.687G>C (GNAS) | XP_016883310.1:p.Ala229= | |
| XM_017027822.1:c.687G>C (GNAS) | XP_016883311.1:p.Ala229= | |
| XM_024451872.1:c.-51G>C (GNAS) | XP_024307640.1:n.-51G>C | |
| NM_016592.4:c.687G>C (GNAS) | NP_057676.1:p.Ala229= | |
| NM_016592.5:c.687G>C (GNAS) MANE Plus Clinical | NP_057676.1:p.Ala229= |