Linked Data
ClinVar Variation Id:
2631688
ClinVar RCV Id:
RCV004528549
dbSNP Id:
rs764628148
gnomAD v2:
20-57415874-G-T
gnomAD v4:
20-58840819-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.58840819G>T , CM000682.2:g.58840819G>T | GRCh38 |
| NC_000020.10:g.57415874G>T , CM000682.1:g.57415874G>T | GRCh37 |
| NC_000020.9:g.56849269G>T | NCBI36 |
| NG_016194.1:g.6080G>T | |
| NG_021433.1:g.15085C>A | |
| NG_016194.2:g.6080G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000419558.7:c.713G>T (GNAS) | ENSP00000416234.2:p.Gly238Val | |
| ENST00000453292.7:c.713G>T (GNAS) | ENSP00000392000.2:p.Gly238Val | |
| ENST00000419558.6:c.713G>T (GNAS) | ENSP00000416234.2:p.Gly238Val | |
| ENST00000453292.6:c.713G>T (GNAS) | ENSP00000392000.2:p.Gly238Val | |
| ENST00000657090.1:c.-39+879G>T (GNAS) | ENSP00000499380.1:n.-39+879G>T | |
| ENST00000667293.1:c.-27-31G>T (GNAS) | ENSP00000499293.1:n.-27-31G>T | |
| ENST00000313949.11:c.713G>T (GNAS) | ENSP00000323571.7:p.Gly238Val | |
| ENST00000371075.7:c.713G>T (GNAS) MANE Plus Clinical | ENSP00000360115.3:p.Gly238Val | |
| ENST00000371098.6:c.713G>T (GNAS) | ENSP00000360139.2:p.Gly238Val | |
| ENST00000419558.5:c.316G>T (GNAS) | ||
| ENST00000453292.5:c.476G>T (GNAS) | ENSP00000392000.1:p.Gly159Val | |
| NM_016592.2:c.713G>T (GNAS) | NP_057676.1:p.Gly238Val | |
| NM_016592.3:c.713G>T (GNAS) | NP_057676.1:p.Gly238Val | |
| NR_002785.2:n.819+1118C>A (GNAS-AS1) | ||
| XM_017027815.1:c.-25G>T (GNAS) | XP_016883304.1:n.-25G>T | |
| XM_017027821.1:c.713G>T (GNAS) | XP_016883310.1:p.Gly238Val | |
| XM_017027822.1:c.713G>T (GNAS) | XP_016883311.1:p.Gly238Val | |
| XM_024451872.1:c.-25G>T (GNAS) | XP_024307640.1:n.-25G>T | |
| NM_016592.4:c.713G>T (GNAS) | NP_057676.1:p.Gly238Val | |
| NM_016592.5:c.713G>T (GNAS) MANE Plus Clinical | NP_057676.1:p.Gly238Val |