Linked Data
dbSNP Id:
rs746894042
ExAC:
6:33414602 C / A
gnomAD v2:
6-33414602-C-A
gnomAD v4:
6-33446825-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33446825C>A , CM000668.2:g.33446825C>A | GRCh38 |
| NC_000006.11:g.33414602C>A , CM000668.1:g.33414602C>A | GRCh37 |
| NC_000006.10:g.33522580C>A | NCBI36 |
| NG_016137.1:g.31756C>A | |
| NG_016137.2:g.31756C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682587.1:c.3536+39C>A (SYNGAP1) | ENSP00000507403.1:n.3536+39C>A | |
| ENST00000418600.7:c.3794+39C>A (SYNGAP1) | ENSP00000403636.3:n.3794+39C>A | |
| ENST00000449372.7:c.3746+39C>A (SYNGAP1) | ENSP00000416519.4:n.3746+39C>A | |
| ENST00000629380.3:c.3794+39C>A (SYNGAP1) | ENSP00000486463.1:n.3794+39C>A | |
| ENST00000636436.1:n.76+39C>A (SYNGAP1) | ||
| ENST00000644458.1:c.3794+39C>A (SYNGAP1) | ENSP00000495541.1:n.3794+39C>A | |
| ENST00000645250.1:c.3617+39C>A (SYNGAP1) | ENSP00000494861.1:n.3617+39C>A | |
| ENST00000646630.1:c.3794+39C>A (SYNGAP1) MANE Select | ENSP00000496007.1:n.3794+39C>A | |
| ENST00000293748.9:c.3749+39C>A (SYNGAP1) | ENSP00000293748.6:n.3749+39C>A | |
| ENST00000418600.6:c.3794+39C>A (SYNGAP1) | ENSP00000403636.3:n.3794+39C>A | |
| ENST00000428982.4:c.3617+39C>A (SYNGAP1) | ENSP00000412475.2:n.3617+39C>A | |
| ENST00000449372.6:c.3746+39C>A (SYNGAP1) | ENSP00000416519.3:n.3746+39C>A | |
| ENST00000470232.1:n.76+39C>A (SYNGAP1) | ||
| ENST00000628646.2:c.3794+39C>A (SYNGAP1) | ENSP00000486431.1:n.3794+39C>A | |
| ENST00000629380.2:c.3794+39C>A (SYNGAP1) | ENSP00000486463.1:n.3794+39C>A | |
| NM_006772.2:c.3794+39C>A (SYNGAP1) | NP_006763.2:n.3794+39C>A | |
| NM_001130066.1:c.3746+39C>A (SYNGAP1) | NP_001123538.1:n.3746+39C>A | |
| NM_001130066.2:c.3746+39C>A (SYNGAP1) | NP_001123538.1:n.3746+39C>A | |
| NM_006772.3:c.3794+39C>A (SYNGAP1) MANE Select | NP_006763.2:n.3794+39C>A | |
| NR_174954.1:n.137-27G>T (SYNGAP1-AS1) |