Linked Data
ClinVar Variation Id:
285235
dbSNP Id:
rs774582375
ExAC:
13:23869547 T / G
gnomAD v2:
13-23869547-T-G
gnomAD v3:
13-23295408-T-G
gnomAD v4:
13-23295408-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.23295408T>G , CM000675.2:g.23295408T>G | GRCh38 |
| NC_000013.10:g.23869547T>G , CM000675.1:g.23869547T>G | GRCh37 |
| NC_000013.9:g.22767547T>G | NCBI36 |
| NG_008759.1:g.119488T>G , LRG_207:g.119488T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683210.1:c.2186-6165A>C (SACS) | ENSP00000506739.1:n.2186-6165A>C | |
| ENST00000218867.4:c.506-7T>G (SGCG) MANE Select | ENSP00000218867.3:n.506-7T>G | |
| ENST00000218867.3:c.506-7T>G (SGCG) | ENSP00000218867.3:n.506-7T>G | |
| NM_000231.2:c.506-7T>G , LRG_207t1:c.506-7T>G (SGCG) | NP_000222.1:n.506-7T>G | |
| XM_005266505.2:c.506-7T>G (SGCG) | XP_005266562.1:n.506-7T>G | |
| XM_006719861.2:c.560-7T>G (SGCG) | XP_006719924.1:n.560-7T>G | |
| XM_006719861.3:c.560-7T>G (SGCG) | XP_006719924.1:n.560-7T>G | |
| XM_024449397.1:c.506-7T>G (SGCG) | XP_024305165.1:n.506-7T>G | |
| NM_000231.3:c.506-7T>G (SGCG) MANE Select | NP_000222.2:n.506-7T>G | |
| NM_001378244.1:c.560-7T>G (SGCG) | NP_001365173.1:n.560-7T>G | |
| NM_001378245.1:c.506-7T>G (SGCG) | NP_001365174.1:n.506-7T>G | |
| NM_001378246.1:c.506-7T>G (SGCG) | NP_001365175.1:n.506-7T>G |