Linked Data
dbSNP Id:
rs201650638
ExAC:
20:57415905 G / C
gnomAD v2:
20-57415905-G-C
gnomAD v3:
20-58840850-G-C
gnomAD v4:
20-58840850-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.58840850G>C , CM000682.2:g.58840850G>C | GRCh38 |
| NC_000020.10:g.57415905G>C , CM000682.1:g.57415905G>C | GRCh37 |
| NC_000020.9:g.56849300G>C | NCBI36 |
| NG_016194.1:g.6111G>C | |
| NG_021433.1:g.15054C>G | |
| NG_016194.2:g.6111G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000419558.7:c.*6G>C (GNAS) | ENSP00000416234.2:n.*6G>C | |
| ENST00000453292.7:c.744G>C (GNAS) | ENSP00000392000.2:n.744G>C | |
| ENST00000306090.12:c.7G>C (GNAS) | ENSP00000304472.12:p.Asp3His | |
| ENST00000419558.6:c.*6G>C (GNAS) | ENSP00000416234.2:n.*6G>C | |
| ENST00000453292.6:c.*6G>C (GNAS) | ENSP00000392000.2:n.*6G>C | |
| ENST00000657090.1:c.-39+910G>C (GNAS) | ENSP00000499380.1:n.-39+910G>C | |
| ENST00000667293.1:c.-27G>C (GNAS) | ENSP00000499293.1:n.-27G>C | |
| ENST00000313949.11:c.*6G>C (GNAS) | ENSP00000323571.7:n.*6G>C | |
| ENST00000371075.7:c.*6G>C (GNAS) MANE Plus Clinical | ENSP00000360115.3:n.*6G>C | |
| ENST00000371098.6:c.*6G>C (GNAS) | ENSP00000360139.2:n.*6G>C | |
| ENST00000419558.5:c.347G>C (GNAS) | ||
| ENST00000453292.5:c.507G>C (GNAS) | ENSP00000392000.1:n.507G>C | |
| NM_016592.2:c.*6G>C (GNAS) | NP_057676.1:n.*6G>C | |
| NM_016592.3:c.*6G>C (GNAS) | NP_057676.1:n.*6G>C | |
| NR_002785.2:n.819+1087C>G (GNAS-AS1) | ||
| XM_017027815.1:c.7G>C (GNAS) | XP_016883304.1:p.Asp3His | |
| XM_017027821.1:c.*6G>C (GNAS) | XP_016883310.1:n.*6G>C | |
| XM_017027822.1:c.*6G>C (GNAS) | XP_016883311.1:n.*6G>C | |
| XM_024451872.1:c.7G>C (GNAS) | XP_024307640.1:p.Asp3His | |
| NM_016592.4:c.*6G>C (GNAS) | NP_057676.1:n.*6G>C | |
| NM_016592.5:c.*6G>C (GNAS) MANE Plus Clinical | NP_057676.1:n.*6G>C |