gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.29595188C>T , CM000683.2:g.29595188C>T | GRCh38 |
| NC_000021.8:g.30967508C>T , CM000683.1:g.30967508C>T | GRCh37 |
| NC_000021.7:g.29889379C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399907.6:c.1251+1338G>A (GRIK1) | ENSP00000382791.1:n.1251+1338G>A | |
| ENST00000327783.9:c.1251+1338G>A (GRIK1) MANE Select | ENSP00000327687.4:n.1251+1338G>A | |
| ENST00000309434.8:c.1134+1338G>A (GRIK1) | ENSP00000311646.8:n.1134+1338G>A | |
| ENST00000327783.8:c.1251+1338G>A (GRIK1) | ENSP00000327687.4:n.1251+1338G>A | |
| ENST00000389124.6:c.1251+1338G>A (GRIK1) | ENSP00000373776.2:n.1251+1338G>A | |
| ENST00000389125.7:c.1206+3642G>A (GRIK1) | ENSP00000373777.3:n.1206+3642G>A | |
| ENST00000399907.5:c.1251+1338G>A (GRIK1) | ENSP00000382791.1:n.1251+1338G>A | |
| ENST00000399909.5:c.1206+3642G>A (GRIK1) | ENSP00000382793.1:n.1206+3642G>A | |
| ENST00000399913.5:c.1251+1338G>A (GRIK1) | ENSP00000382797.1:n.1251+1338G>A | |
| ENST00000399914.5:c.1206+3642G>A (GRIK1) | ENSP00000382798.1:n.1206+3642G>A | |
| ENST00000422809.5:c.513-2382C>T (BACH1) | ||
| ENST00000468059.1:c.326-2382C>T (BACH1) | ||
| ENST00000535441.5:c.1089+3642G>A (GRIK1) | ENSP00000446326.2:n.1089+3642G>A | |
| NM_000830.3:c.1251+1338G>A (GRIK1) | NP_000821.1:n.1251+1338G>A | |
| NM_175611.2:c.1206+3642G>A (GRIK1) | NP_783300.1:n.1206+3642G>A | |
| XM_005260942.1:c.1206+3642G>A (GRIK1) | XP_005260999.1:n.1206+3642G>A | |
| XM_005260943.1:c.1251+1338G>A (GRIK1) | XP_005261000.1:n.1251+1338G>A | |
| XM_005260944.2:c.1206+3642G>A (GRIK1) | XP_005261001.1:n.1206+3642G>A | |
| XM_006723991.1:c.1251+1338G>A (GRIK1) | XP_006724054.1:n.1251+1338G>A | |
| XM_011529527.1:c.1251+1338G>A (GRIK1) | XP_011527829.1:n.1251+1338G>A | |
| XM_011529528.1:c.1251+1338G>A (GRIK1) | XP_011527830.1:n.1251+1338G>A | |
| NM_000830.4:c.1251+1338G>A (GRIK1) | NP_000821.1:n.1251+1338G>A | |
| NM_001320616.1:c.1251+1338G>A (GRIK1) | NP_001307545.1:n.1251+1338G>A | |
| NM_001320618.1:c.1038+3642G>A (GRIK1) | NP_001307547.1:n.1038+3642G>A | |
| NM_001320621.1:c.780+3642G>A (GRIK1) | NP_001307550.1:n.780+3642G>A | |
| NM_001330993.1:c.1206+3642G>A (GRIK1) | NP_001317922.1:n.1206+3642G>A | |
| NM_001330994.1:c.1251+1338G>A (GRIK1) | NP_001317923.1:n.1251+1338G>A | |
| XM_005260944.3:c.1206+3642G>A (GRIK1) | XP_005261001.1:n.1206+3642G>A | |
| XR_001754829.2:n.1421+1338G>A (GRIK1) | ||
| NM_000830.5:c.1251+1338G>A (GRIK1) | NP_000821.1:n.1251+1338G>A | |
| NM_001320616.2:c.1251+1338G>A (GRIK1) | NP_001307545.1:n.1251+1338G>A | |
| NM_001320618.2:c.1038+3642G>A (GRIK1) | NP_001307547.1:n.1038+3642G>A | |
| NM_001320621.2:c.780+3642G>A (GRIK1) | NP_001307550.1:n.780+3642G>A | |
| NM_001330993.2:c.1206+3642G>A (GRIK1) | NP_001317922.1:n.1206+3642G>A | |
| NM_001330994.2:c.1251+1338G>A (GRIK1) MANE Select | NP_001317923.1:n.1251+1338G>A | |
| NM_175611.3:c.1206+3642G>A (GRIK1) | NP_783300.1:n.1206+3642G>A | |
| NM_000830.6:c.1251+1338G>A (GRIK1) | NP_000821.1:n.1251+1338G>A | |
| NM_001393424.1:c.1206+3642G>A (GRIK1) | NP_001380353.1:n.1206+3642G>A | |
| NM_001393425.1:c.1251+1338G>A (GRIK1) | NP_001380354.1:n.1251+1338G>A | |
| NM_001393426.1:c.1083+1338G>A (GRIK1) | NP_001380355.1:n.1083+1338G>A |