Linked Data
dbSNP Id:
rs1407877
gnomAD v2:
9-104355455-C-T
gnomAD v3:
9-101593173-C-T
gnomAD v4:
9-101593173-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.101593173C>T , CM000671.2:g.101593173C>T | GRCh38 |
| NC_000009.11:g.104355455C>T , CM000671.1:g.104355455C>T | GRCh37 |
| NC_000009.10:g.103395276C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000361820.6:c.2767-13813G>A (GRIN3A) MANE Select | ENSP00000355155.3:n.2767-13813G>A | |
| ENST00000374806.2:c.*1236G>A (PPP3R2) MANE Select | ENSP00000363939.2:n.*1236G>A | |
| ENST00000361820.3:c.2767-13813G>A (GRIN3A) | ENSP00000355155.3:n.2767-13813G>A | |
| ENST00000374806.1:c.*1236G>A (PPP3R2) | ENSP00000363939.1:n.*1236G>A | |
| NM_133445.2:c.2767-13813G>A (GRIN3A) | NP_597702.2:n.2767-13813G>A | |
| NM_147180.3:c.*1236G>A (PPP3R2) | NP_671709.1:n.*1236G>A | |
| NM_147180.4:c.*1236G>A (PPP3R2) MANE Select | NP_671709.2:n.*1236G>A | |
| NM_133445.3:c.2767-13813G>A (GRIN3A) MANE Select | NP_597702.2:n.2767-13813G>A |