Linked Data
ClinVar Variation Id:
2006
dbSNP Id:
rs104894422
gnomAD v2:
13-23898652-G-A
gnomAD v4:
13-23324513-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.23324513G>A , CM000675.2:g.23324513G>A | GRCh38 |
| NC_000013.10:g.23898652G>A , CM000675.1:g.23898652G>A | GRCh37 |
| NC_000013.9:g.22796652G>A | NCBI36 |
| NG_008759.1:g.148593G>A , LRG_207:g.148593G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682775.1:c.2186-12398C>T (SACS) | ENSP00000508399.1:n.2186-12398C>T | |
| ENST00000683210.1:c.2185+29272C>T (SACS) | ENSP00000506739.1:n.2185+29272C>T | |
| ENST00000684325.1:c.2186-2839C>T (SACS) | ENSP00000508121.1:n.2186-2839C>T | |
| ENST00000684497.1:c.2186-1869C>T (SACS) | ENSP00000507057.1:n.2186-1869C>T | |
| ENST00000218867.4:c.848G>A (SGCG) MANE Select | ENSP00000218867.3:p.Cys283Tyr | |
| ENST00000218867.3:c.848G>A (SGCG) | ENSP00000218867.3:p.Cys283Tyr | |
| NM_000231.2:c.848G>A , LRG_207t1:c.848G>A (SGCG) | NP_000222.1:p.Cys283Tyr | |
| XM_005266505.2:c.848G>A (SGCG) | XP_005266562.1:p.Cys283Tyr | |
| XM_006719861.2:c.902G>A (SGCG) | XP_006719924.1:p.Cys301Tyr | |
| XM_006719861.3:c.902G>A (SGCG) | XP_006719924.1:p.Cys301Tyr | |
| XM_024449397.1:c.848G>A (SGCG) | XP_024305165.1:p.Cys283Tyr | |
| NM_000231.3:c.848G>A (SGCG) MANE Select | NP_000222.2:p.Cys283Tyr | |
| NM_001378244.1:c.902G>A (SGCG) | NP_001365173.1:p.Cys301Tyr | |
| NM_001378245.1:c.848G>A (SGCG) | NP_001365174.1:p.Cys283Tyr | |
| NM_001378246.1:c.848G>A (SGCG) | NP_001365175.1:p.Cys283Tyr |