Linked Data
ClinVar Variation Id:
281085
dbSNP Id:
rs547818652
ExAC:
13:23894778 T / C
gnomAD v2:
13-23894778-T-C
gnomAD v3:
13-23320639-T-C
gnomAD v4:
13-23320639-T-C
PubMed:
PMID:23891399
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.23320639T>C , CM000675.2:g.23320639T>C | GRCh38 |
| NC_000013.10:g.23894778T>C , CM000675.1:g.23894778T>C | GRCh37 |
| NC_000013.9:g.22792778T>C | NCBI36 |
| NG_008759.1:g.144719T>C , LRG_207:g.144719T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682775.1:c.2186-8524A>G (SACS) | ENSP00000508399.1:n.2186-8524A>G | |
| ENST00000683210.1:c.2186-31396A>G (SACS) | ENSP00000506739.1:n.2186-31396A>G | |
| ENST00000684325.1:c.*104+927A>G (SACS) | ENSP00000508121.1:n.*104+927A>G | |
| ENST00000218867.4:c.581T>C (SGCG) MANE Select | ENSP00000218867.3:p.Leu194Ser | |
| ENST00000218867.3:c.581T>C (SGCG) | ENSP00000218867.3:p.Leu194Ser | |
| NM_000231.2:c.581T>C , LRG_207t1:c.581T>C (SGCG) | NP_000222.1:p.Leu194Ser | |
| XM_005266505.2:c.581T>C (SGCG) | XP_005266562.1:p.Leu194Ser | |
| XM_006719861.2:c.635T>C (SGCG) | XP_006719924.1:p.Leu212Ser | |
| XM_006719861.3:c.635T>C (SGCG) | XP_006719924.1:p.Leu212Ser | |
| XM_024449397.1:c.581T>C (SGCG) | XP_024305165.1:p.Leu194Ser | |
| XR_001749787.1:n.1181+927A>G | ||
| NM_000231.3:c.581T>C (SGCG) MANE Select | NP_000222.2:p.Leu194Ser | |
| NM_001378244.1:c.635T>C (SGCG) | NP_001365173.1:p.Leu212Ser | |
| NM_001378245.1:c.581T>C (SGCG) | NP_001365174.1:p.Leu194Ser | |
| NM_001378246.1:c.581T>C (SGCG) | NP_001365175.1:p.Leu194Ser |