Linked Data
dbSNP Id:
rs202136046
ExAC:
6:33414552 C / T
gnomAD v2:
6-33414552-C-T
gnomAD v3:
6-33446775-C-T
gnomAD v4:
6-33446775-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33446775C>T , CM000668.2:g.33446775C>T | GRCh38 |
| NC_000006.11:g.33414552C>T , CM000668.1:g.33414552C>T | GRCh37 |
| NC_000006.10:g.33522530C>T | NCBI36 |
| NG_016137.1:g.31706C>T | |
| NG_016137.2:g.31706C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682587.1:c.3525C>T (SYNGAP1) | ENSP00000507403.1:p.Ser1175= | |
| ENST00000418600.7:c.3783C>T (SYNGAP1) | ENSP00000403636.3:p.Ser1261= | |
| ENST00000449372.7:c.3735C>T (SYNGAP1) | ENSP00000416519.4:p.Ser1245= | |
| ENST00000629380.3:c.3783C>T (SYNGAP1) | ENSP00000486463.1:p.Ser1261= | |
| ENST00000636436.1:n.65C>T (SYNGAP1) | ||
| ENST00000644458.1:c.3783C>T (SYNGAP1) | ENSP00000495541.1:p.Ser1261= | |
| ENST00000645250.1:c.3606C>T (SYNGAP1) | ENSP00000494861.1:p.Ser1202= | |
| ENST00000646630.1:c.3783C>T (SYNGAP1) MANE Select | ENSP00000496007.1:p.Ser1261= | |
| ENST00000293748.9:c.3738C>T (SYNGAP1) | ENSP00000293748.6:p.Ser1246= | |
| ENST00000418600.6:c.3783C>T (SYNGAP1) | ENSP00000403636.3:p.Ser1261= | |
| ENST00000428982.4:c.3606C>T (SYNGAP1) | ENSP00000412475.2:p.Ser1202= | |
| ENST00000449372.6:c.3735C>T (SYNGAP1) | ENSP00000416519.3:p.Ser1245= | |
| ENST00000470232.1:n.65C>T (SYNGAP1) | ||
| ENST00000628646.2:c.3783C>T (SYNGAP1) | ENSP00000486431.1:p.Ser1261= | |
| ENST00000629380.2:c.3783C>T (SYNGAP1) | ENSP00000486463.1:p.Ser1261= | |
| NM_006772.2:c.3783C>T (SYNGAP1) | NP_006763.2:p.Ser1261= | |
| NM_001130066.1:c.3735C>T (SYNGAP1) | NP_001123538.1:p.Ser1245= | |
| NM_001130066.2:c.3735C>T (SYNGAP1) | NP_001123538.1:p.Ser1245= | |
| NM_006772.3:c.3783C>T (SYNGAP1) MANE Select | NP_006763.2:p.Ser1261= | |
| NR_174954.1:n.160G>A (SYNGAP1-AS1) |