Linked Data
ClinVar Variation Id:
284771
dbSNP Id:
rs114160429
ExAC:
13:23869587 A / T
gnomAD v2:
13-23869587-A-T
gnomAD v3:
13-23295448-A-T
gnomAD v4:
13-23295448-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.23295448A>T , CM000675.2:g.23295448A>T | GRCh38 |
| NC_000013.10:g.23869587A>T , CM000675.1:g.23869587A>T | GRCh37 |
| NC_000013.9:g.22767587A>T | NCBI36 |
| NG_008759.1:g.119528A>T , LRG_207:g.119528A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683210.1:c.2186-6205T>A (SACS) | ENSP00000506739.1:n.2186-6205T>A | |
| ENST00000218867.4:c.539A>T (SGCG) MANE Select | ENSP00000218867.3:p.Glu180Val | |
| ENST00000218867.3:c.539A>T (SGCG) | ENSP00000218867.3:p.Glu180Val | |
| NM_000231.2:c.539A>T , LRG_207t1:c.539A>T (SGCG) | NP_000222.1:p.Glu180Val | |
| XM_005266505.2:c.539A>T (SGCG) | XP_005266562.1:p.Glu180Val | |
| XM_006719861.2:c.593A>T (SGCG) | XP_006719924.1:p.Glu198Val | |
| XM_006719861.3:c.593A>T (SGCG) | XP_006719924.1:p.Glu198Val | |
| XM_024449397.1:c.539A>T (SGCG) | XP_024305165.1:p.Glu180Val | |
| NM_000231.3:c.539A>T (SGCG) MANE Select | NP_000222.2:p.Glu180Val | |
| NM_001378244.1:c.593A>T (SGCG) | NP_001365173.1:p.Glu198Val | |
| NM_001378245.1:c.539A>T (SGCG) | NP_001365174.1:p.Glu180Val | |
| NM_001378246.1:c.539A>T (SGCG) | NP_001365175.1:p.Glu180Val |