Linked Data
ClinVar Variation Id:
392545
dbSNP Id:
rs754415994
ExAC:
13:23894774 A / G
gnomAD v2:
13-23894774-A-G
gnomAD v3:
13-23320635-A-G
gnomAD v4:
13-23320635-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.23320635A>G , CM000675.2:g.23320635A>G | GRCh38 |
| NC_000013.10:g.23894774A>G , CM000675.1:g.23894774A>G | GRCh37 |
| NC_000013.9:g.22792774A>G | NCBI36 |
| NG_008759.1:g.144715A>G , LRG_207:g.144715A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682775.1:c.2186-8520T>C (SACS) | ENSP00000508399.1:n.2186-8520T>C | |
| ENST00000683210.1:c.2186-31392T>C (SACS) | ENSP00000506739.1:n.2186-31392T>C | |
| ENST00000684325.1:c.*104+931T>C (SACS) | ENSP00000508121.1:n.*104+931T>C | |
| ENST00000218867.4:c.579-2A>G (SGCG) MANE Select | ENSP00000218867.3:n.579-2A>G | |
| ENST00000218867.3:c.579-2A>G (SGCG) | ENSP00000218867.3:n.579-2A>G | |
| NM_000231.2:c.579-2A>G , LRG_207t1:c.579-2A>G (SGCG) | NP_000222.1:n.579-2A>G | |
| XM_005266505.2:c.579-2A>G (SGCG) | XP_005266562.1:n.579-2A>G | |
| XM_006719861.2:c.633-2A>G (SGCG) | XP_006719924.1:n.633-2A>G | |
| XM_006719861.3:c.633-2A>G (SGCG) | XP_006719924.1:n.633-2A>G | |
| XM_024449397.1:c.579-2A>G (SGCG) | XP_024305165.1:n.579-2A>G | |
| XR_001749787.1:n.1181+931T>C | ||
| NM_000231.3:c.579-2A>G (SGCG) MANE Select | NP_000222.2:n.579-2A>G | |
| NM_001378244.1:c.633-2A>G (SGCG) | NP_001365173.1:n.633-2A>G | |
| NM_001378245.1:c.579-2A>G (SGCG) | NP_001365174.1:n.579-2A>G | |
| NM_001378246.1:c.579-2A>G (SGCG) | NP_001365175.1:n.579-2A>G |