Linked Data
dbSNP Id:
rs1566049936
gnomAD v4:
13-23324508-C-T
COSMIC:
COSM695799
MyVariant Identifiers:
chr13:g.23898647C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.23324508C>T , CM000675.2:g.23324508C>T | GRCh38 |
| NC_000013.10:g.23898647C>T , CM000675.1:g.23898647C>T | GRCh37 |
| NC_000013.9:g.22796647C>T | NCBI36 |
| NG_008759.1:g.148588C>T , LRG_207:g.148588C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682775.1:c.2186-12393G>A (SACS) | ENSP00000508399.1:n.2186-12393G>A | |
| ENST00000683210.1:c.2185+29277G>A (SACS) | ENSP00000506739.1:n.2185+29277G>A | |
| ENST00000684325.1:c.2186-2834G>A (SACS) | ENSP00000508121.1:n.2186-2834G>A | |
| ENST00000684497.1:c.2186-1864G>A (SACS) | ENSP00000507057.1:n.2186-1864G>A | |
| ENST00000218867.4:c.843C>T (SGCG) MANE Select | ENSP00000218867.3:p.Thr281= | |
| ENST00000218867.3:c.843C>T (SGCG) | ENSP00000218867.3:p.Thr281= | |
| NM_000231.2:c.843C>T , LRG_207t1:c.843C>T (SGCG) | NP_000222.1:p.Thr281= | |
| XM_005266505.2:c.843C>T (SGCG) | XP_005266562.1:p.Thr281= | |
| XM_006719861.2:c.897C>T (SGCG) | XP_006719924.1:p.Thr299= | |
| XM_006719861.3:c.897C>T (SGCG) | XP_006719924.1:p.Thr299= | |
| XM_024449397.1:c.843C>T (SGCG) | XP_024305165.1:p.Thr281= | |
| NM_000231.3:c.843C>T (SGCG) MANE Select | NP_000222.2:p.Thr281= | |
| NM_001378244.1:c.897C>T (SGCG) | NP_001365173.1:p.Thr299= | |
| NM_001378245.1:c.843C>T (SGCG) | NP_001365174.1:p.Thr281= | |
| NM_001378246.1:c.843C>T (SGCG) | NP_001365175.1:p.Thr281= |