Linked Data
ClinVar Variation Id:
1923639
ClinVar RCV Id:
RCV002604805
dbSNP Id:
rs1761102337
gnomAD v3:
6-33443370-G-C
gnomAD v4:
6-33443370-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33443370G>C , CM000668.2:g.33443370G>C | GRCh38 |
| NC_000006.11:g.33411147G>C , CM000668.1:g.33411147G>C | GRCh37 |
| NC_000006.10:g.33519125G>C | NCBI36 |
| NG_016137.1:g.28301G>C | |
| NG_016137.2:g.28301G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682587.1:c.2560G>C (SYNGAP1) | ENSP00000507403.1:p.Gly854Arg | |
| ENST00000418600.7:c.2818G>C (SYNGAP1) | ENSP00000403636.3:p.Gly940Arg | |
| ENST00000449372.7:c.2776G>C (SYNGAP1) | ENSP00000416519.4:p.Gly926Arg | |
| ENST00000629380.3:c.2818G>C (SYNGAP1) | ENSP00000486463.1:p.Gly940Arg | |
| ENST00000644458.1:c.2818G>C (SYNGAP1) | ENSP00000495541.1:p.Gly940Arg | |
| ENST00000645250.1:c.2641G>C (SYNGAP1) | ENSP00000494861.1:p.Gly881Arg | |
| ENST00000646630.1:c.2818G>C (SYNGAP1) MANE Select | ENSP00000496007.1:p.Gly940Arg | |
| ENST00000293748.9:c.2773G>C (SYNGAP1) | ENSP00000293748.6:p.Gly925Arg | |
| ENST00000418600.6:c.2818G>C (SYNGAP1) | ENSP00000403636.3:p.Gly940Arg | |
| ENST00000428982.4:c.2641G>C (SYNGAP1) | ENSP00000412475.2:p.Gly881Arg | |
| ENST00000449372.6:c.2776G>C (SYNGAP1) | ENSP00000416519.3:p.Gly926Arg | |
| ENST00000628646.2:c.2818G>C (SYNGAP1) | ENSP00000486431.1:p.Gly940Arg | |
| ENST00000629380.2:c.2818G>C (SYNGAP1) | ENSP00000486463.1:p.Gly940Arg | |
| NM_006772.2:c.2818G>C (SYNGAP1) | NP_006763.2:p.Gly940Arg | |
| NM_001130066.1:c.2776G>C (SYNGAP1) | NP_001123538.1:p.Gly926Arg | |
| NM_001130066.2:c.2776G>C (SYNGAP1) | NP_001123538.1:p.Gly926Arg | |
| NM_006772.3:c.2818G>C (SYNGAP1) MANE Select | NP_006763.2:p.Gly940Arg | |
| NR_174954.1:n.329+3236C>G (SYNGAP1-AS1) |