Linked Data
ClinVar Variation Id:
1794501
ClinVar RCV Id:
RCV002437280
dbSNP Id:
rs764766266
ExAC:
6:33410996 A / C
gnomAD v2:
6-33410996-A-C
gnomAD v3:
6-33443219-A-C
gnomAD v4:
6-33443219-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33443219A>C , CM000668.2:g.33443219A>C | GRCh38 |
| NC_000006.11:g.33410996A>C , CM000668.1:g.33410996A>C | GRCh37 |
| NC_000006.10:g.33518974A>C | NCBI36 |
| NG_016137.1:g.28150A>C | |
| NG_016137.2:g.28150A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682587.1:c.2409A>C (SYNGAP1) | ENSP00000507403.1:p.Gly803= | |
| ENST00000418600.7:c.2667A>C (SYNGAP1) | ENSP00000403636.3:p.Gly889= | |
| ENST00000449372.7:c.2625A>C (SYNGAP1) | ENSP00000416519.4:p.Gly875= | |
| ENST00000629380.3:c.2667A>C (SYNGAP1) | ENSP00000486463.1:p.Gly889= | |
| ENST00000644458.1:c.2667A>C (SYNGAP1) | ENSP00000495541.1:p.Gly889= | |
| ENST00000645250.1:c.2490A>C (SYNGAP1) | ENSP00000494861.1:p.Gly830= | |
| ENST00000646630.1:c.2667A>C (SYNGAP1) MANE Select | ENSP00000496007.1:p.Gly889= | |
| ENST00000293748.9:c.2622A>C (SYNGAP1) | ENSP00000293748.6:p.Gly874= | |
| ENST00000418600.6:c.2667A>C (SYNGAP1) | ENSP00000403636.3:p.Gly889= | |
| ENST00000428982.4:c.2490A>C (SYNGAP1) | ENSP00000412475.2:p.Gly830= | |
| ENST00000449372.6:c.2625A>C (SYNGAP1) | ENSP00000416519.3:p.Gly875= | |
| ENST00000628646.2:c.2667A>C (SYNGAP1) | ENSP00000486431.1:p.Gly889= | |
| ENST00000629380.2:c.2667A>C (SYNGAP1) | ENSP00000486463.1:p.Gly889= | |
| NM_006772.2:c.2667A>C (SYNGAP1) | NP_006763.2:p.Gly889= | |
| NM_001130066.1:c.2625A>C (SYNGAP1) | NP_001123538.1:p.Gly875= | |
| NM_001130066.2:c.2625A>C (SYNGAP1) | NP_001123538.1:p.Gly875= | |
| NM_006772.3:c.2667A>C (SYNGAP1) MANE Select | NP_006763.2:p.Gly889= | |
| NR_174954.1:n.329+3387T>G (SYNGAP1-AS1) |