Linked Data
dbSNP Id:
rs773839807
ExAC:
20:57415834 A / C
gnomAD v2:
20-57415834-A-C
gnomAD v3:
20-58840779-A-C
gnomAD v4:
20-58840779-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.58840779A>C , CM000682.2:g.58840779A>C | GRCh38 |
| NC_000020.10:g.57415834A>C , CM000682.1:g.57415834A>C | GRCh37 |
| NC_000020.9:g.56849229A>C | NCBI36 |
| NG_016194.1:g.6040A>C | |
| NG_021433.1:g.15125T>G | |
| NG_016194.2:g.6040A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000419558.7:c.673A>C (GNAS) | ENSP00000416234.2:p.Thr225Pro | |
| ENST00000453292.7:c.673A>C (GNAS) | ENSP00000392000.2:p.Thr225Pro | |
| ENST00000419558.6:c.673A>C (GNAS) | ENSP00000416234.2:p.Thr225Pro | |
| ENST00000453292.6:c.673A>C (GNAS) | ENSP00000392000.2:p.Thr225Pro | |
| ENST00000657090.1:c.-39+839A>C (GNAS) | ENSP00000499380.1:n.-39+839A>C | |
| ENST00000667293.1:c.-27-71A>C (GNAS) | ENSP00000499293.1:n.-27-71A>C | |
| ENST00000313949.11:c.673A>C (GNAS) | ENSP00000323571.7:p.Thr225Pro | |
| ENST00000371075.7:c.673A>C (GNAS) MANE Plus Clinical | ENSP00000360115.3:p.Thr225Pro | |
| ENST00000371098.6:c.673A>C (GNAS) | ENSP00000360139.2:p.Thr225Pro | |
| ENST00000419558.5:c.276A>C (GNAS) | ||
| ENST00000453292.5:c.436A>C (GNAS) | ENSP00000392000.1:p.Thr146Pro | |
| NM_016592.2:c.673A>C (GNAS) | NP_057676.1:p.Thr225Pro | |
| NM_016592.3:c.673A>C (GNAS) | NP_057676.1:p.Thr225Pro | |
| NR_002785.2:n.819+1158T>G (GNAS-AS1) | ||
| XM_017027821.1:c.673A>C (GNAS) | XP_016883310.1:p.Thr225Pro | |
| XM_017027822.1:c.673A>C (GNAS) | XP_016883311.1:p.Thr225Pro | |
| XM_024451872.1:c.-65A>C (GNAS) | XP_024307640.1:n.-65A>C | |
| NM_016592.4:c.673A>C (GNAS) | NP_057676.1:p.Thr225Pro | |
| NM_016592.5:c.673A>C (GNAS) MANE Plus Clinical | NP_057676.1:p.Thr225Pro |