Linked Data
ClinVar Variation Id:
3197
ClinVar RCV Id:
RCV000003349
dbSNP Id:
rs28942099
PubMed:
PMID:12496757
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.66995394G>T , CM000669.2:g.66995394G>T | GRCh38 |
| NC_000007.13:g.66460381G>T , CM000669.1:g.66460381G>T | GRCh37 |
| NC_000007.12:g.66097816G>T | NCBI36 |
| NG_007277.1:g.5208C>A , LRG_104:g.5208C>A | |
| NG_033069.1:g.3590G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000414306.6:c.24C>A (SBDS) | ENSP00000394586.1:p.Asn8Lys | |
| ENST00000697861.1:c.24C>A (SBDS) | ENSP00000513460.1:p.Asn8Lys | |
| ENST00000697862.1:c.24C>A (SBDS) | ENSP00000513461.1:p.Asn8Lys | |
| ENST00000697863.1:c.-30-4C>A (SBDS) | ENSP00000513462.1:n.-30-4C>A | |
| ENST00000697864.1:n.220C>A (SBDS) | ||
| ENST00000697865.1:c.-30-4C>A (SBDS) | ENSP00000513463.1:n.-30-4C>A | |
| ENST00000697866.1:c.-487C>A (SBDS) | ENSP00000513464.1:n.-487C>A | |
| ENST00000697868.1:c.24C>A (SBDS) | ENSP00000513466.1:p.Asn8Lys | |
| ENST00000697869.1:c.24C>A (SBDS) | ENSP00000513467.1:p.Asn8Lys | |
| ENST00000697897.1:c.24C>A (SBDS) | ENSP00000513469.1:p.Asn8Lys | |
| ENST00000246868.7:c.24C>A (SBDS) MANE Select | ENSP00000246868.2:p.Asn8Lys | |
| ENST00000246868.6:c.24C>A (SBDS) | ENSP00000246868.2:p.Asn8Lys | |
| ENST00000414306.5:c.24C>A (SBDS) | ENSP00000394586.1:p.Asn8Lys | |
| ENST00000490953.5:n.173C>A (SBDS) | ||
| ENST00000491969.5:n.222G>T (TYW1) | ||
| ENST00000617799.1:c.24C>A (SBDS) | ENSP00000483040.1:p.Asn8Lys | |
| NM_016038.2:c.24C>A , LRG_104t1:c.24C>A (SBDS) | NP_057122.2:p.Asn8Lys | |
| NM_016038.3:c.24C>A (SBDS) | NP_057122.2:p.Asn8Lys | |
| NM_016038.4:c.24C>A (SBDS) MANE Select | NP_057122.2:p.Asn8Lys |