Linked Data
dbSNP Id:
rs754189409
ExAC:
13:23898700 T / C
gnomAD v2:
13-23898700-T-C
gnomAD v3:
13-23324561-T-C
gnomAD v4:
13-23324561-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.23324561T>C , CM000675.2:g.23324561T>C | GRCh38 |
| NC_000013.10:g.23898700T>C , CM000675.1:g.23898700T>C | GRCh37 |
| NC_000013.9:g.22796700T>C | NCBI36 |
| NG_008759.1:g.148641T>C , LRG_207:g.148641T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682775.1:c.2186-12446A>G (SACS) | ENSP00000508399.1:n.2186-12446A>G | |
| ENST00000683210.1:c.2185+29224A>G (SACS) | ENSP00000506739.1:n.2185+29224A>G | |
| ENST00000684325.1:c.2186-2887A>G (SACS) | ENSP00000508121.1:n.2186-2887A>G | |
| ENST00000684497.1:c.2186-1917A>G (SACS) | ENSP00000507057.1:n.2186-1917A>G | |
| ENST00000218867.4:c.*20T>C (SGCG) MANE Select | ENSP00000218867.3:n.*20T>C | |
| ENST00000218867.3:c.*20T>C (SGCG) | ENSP00000218867.3:n.*20T>C | |
| NM_000231.2:c.*20T>C , LRG_207t1:c.*20T>C (SGCG) | NP_000222.1:n.*20T>C | |
| XM_005266505.2:c.*20T>C (SGCG) | XP_005266562.1:n.*20T>C | |
| XM_006719861.2:c.*20T>C (SGCG) | XP_006719924.1:n.*20T>C | |
| XM_006719861.3:c.*20T>C (SGCG) | XP_006719924.1:n.*20T>C | |
| XM_024449397.1:c.*20T>C (SGCG) | XP_024305165.1:n.*20T>C | |
| NM_000231.3:c.*20T>C (SGCG) MANE Select | NP_000222.2:n.*20T>C | |
| NM_001378244.1:c.*20T>C (SGCG) | NP_001365173.1:n.*20T>C | |
| NM_001378245.1:c.*20T>C (SGCG) | NP_001365174.1:n.*20T>C | |
| NM_001378246.1:c.*20T>C (SGCG) | NP_001365175.1:n.*20T>C |