Linked Data
ClinVar Variation Id:
708250
ClinVar RCV Id:
RCV000879476
dbSNP Id:
rs761582251
ExAC:
6:33414407 A / G
gnomAD v2:
6-33414407-A-G
gnomAD v3:
6-33446630-A-G
gnomAD v4:
6-33446630-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33446630A>G , CM000668.2:g.33446630A>G | GRCh38 |
| NC_000006.11:g.33414407A>G , CM000668.1:g.33414407A>G | GRCh37 |
| NC_000006.10:g.33522385A>G | NCBI36 |
| NG_016137.1:g.31561A>G | |
| NG_016137.2:g.31561A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682587.1:c.3380A>G (SYNGAP1) | ENSP00000507403.1:p.Asn1127Ser | |
| ENST00000418600.7:c.3638A>G (SYNGAP1) | ENSP00000403636.3:p.Asn1213Ser | |
| ENST00000449372.7:c.3590A>G (SYNGAP1) | ENSP00000416519.4:p.Asn1197Ser | |
| ENST00000629380.3:c.3638A>G (SYNGAP1) | ENSP00000486463.1:p.Asn1213Ser | |
| ENST00000644458.1:c.3638A>G (SYNGAP1) | ENSP00000495541.1:p.Asn1213Ser | |
| ENST00000645250.1:c.3461A>G (SYNGAP1) | ENSP00000494861.1:p.Asn1154Ser | |
| ENST00000646630.1:c.3638A>G (SYNGAP1) MANE Select | ENSP00000496007.1:p.Asn1213Ser | |
| ENST00000293748.9:c.3593A>G (SYNGAP1) | ENSP00000293748.6:p.Asn1198Ser | |
| ENST00000418600.6:c.3638A>G (SYNGAP1) | ENSP00000403636.3:p.Asn1213Ser | |
| ENST00000428982.4:c.3461A>G (SYNGAP1) | ENSP00000412475.2:p.Asn1154Ser | |
| ENST00000449372.6:c.3590A>G (SYNGAP1) | ENSP00000416519.3:p.Asn1197Ser | |
| ENST00000628646.2:c.3638A>G (SYNGAP1) | ENSP00000486431.1:p.Asn1213Ser | |
| ENST00000629380.2:c.3638A>G (SYNGAP1) | ENSP00000486463.1:p.Asn1213Ser | |
| NM_006772.2:c.3638A>G (SYNGAP1) | NP_006763.2:p.Asn1213Ser | |
| NM_001130066.1:c.3590A>G (SYNGAP1) | NP_001123538.1:p.Asn1197Ser | |
| NM_001130066.2:c.3590A>G (SYNGAP1) | NP_001123538.1:p.Asn1197Ser | |
| NM_006772.3:c.3638A>G (SYNGAP1) MANE Select | NP_006763.2:p.Asn1213Ser | |
| NR_174954.1:n.305T>C (SYNGAP1-AS1) |