Linked Data
ClinVar Variation Id:
219289
dbSNP Id:
rs373730800
gnomAD v2:
7-66460307-T-G
gnomAD v3:
7-66995320-T-G
gnomAD v4:
7-66995320-T-G
PubMed:
PMID:24898207
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.66995320T>G , CM000669.2:g.66995320T>G | GRCh38 |
| NC_000007.13:g.66460307T>G , CM000669.1:g.66460307T>G | GRCh37 |
| NC_000007.12:g.66097742T>G | NCBI36 |
| NG_007277.1:g.5282A>C , LRG_104:g.5282A>C | |
| NG_033069.1:g.3516T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000414306.6:c.98A>C (SBDS) | ENSP00000394586.1:p.Lys33Thr | |
| ENST00000697861.1:c.98A>C (SBDS) | ENSP00000513460.1:p.Lys33Thr | |
| ENST00000697862.1:c.98A>C (SBDS) | ENSP00000513461.1:p.Lys33Thr | |
| ENST00000697863.1:c.41A>C (SBDS) | ENSP00000513462.1:p.Lys14Thr | |
| ENST00000697864.1:n.294A>C (SBDS) | ||
| ENST00000697865.1:c.41A>C (SBDS) | ENSP00000513463.1:p.Lys14Thr | |
| ENST00000697866.1:c.-413A>C (SBDS) | ENSP00000513464.1:n.-413A>C | |
| ENST00000697868.1:c.98A>C (SBDS) | ENSP00000513466.1:p.Lys33Thr | |
| ENST00000697869.1:c.98A>C (SBDS) | ENSP00000513467.1:p.Lys33Thr | |
| ENST00000697897.1:c.98A>C (SBDS) | ENSP00000513469.1:p.Lys33Thr | |
| ENST00000246868.7:c.98A>C (SBDS) MANE Select | ENSP00000246868.2:p.Lys33Thr | |
| ENST00000246868.6:c.98A>C (SBDS) | ENSP00000246868.2:p.Lys33Thr | |
| ENST00000414306.5:c.98A>C (SBDS) | ENSP00000394586.1:p.Lys33Thr | |
| ENST00000490953.5:n.247A>C (SBDS) | ||
| ENST00000491969.5:n.148T>G (TYW1) | ||
| ENST00000617799.1:c.98A>C (SBDS) | ENSP00000483040.1:p.Lys33Thr | |
| NM_016038.2:c.98A>C , LRG_104t1:c.98A>C (SBDS) | NP_057122.2:p.Lys33Thr | |
| NM_016038.3:c.98A>C (SBDS) | NP_057122.2:p.Lys33Thr | |
| NM_016038.4:c.98A>C (SBDS) MANE Select | NP_057122.2:p.Lys33Thr |