Linked Data
ClinVar Variation Id:
425155
dbSNP Id:
rs139117131
ExAC:
19:1912594 C / T
gnomAD v2:
19-1912594-C-T
gnomAD v3:
19-1912595-C-T
gnomAD v4:
19-1912595-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1912595C>T , CM000681.2:g.1912595C>T | GRCh38 |
| NC_000019.9:g.1912594C>T , CM000681.1:g.1912594C>T | GRCh37 |
| NC_000019.8:g.1863594C>T | NCBI36 |
| NG_051211.1:g.12382C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409472.6:c.-41-2384C>T (SCAMP4) | ENSP00000386865.1:n.-41-2384C>T | |
| ENST00000316097.13:c.-41-2384C>T (SCAMP4) MANE Select | ENSP00000316007.7:n.-41-2384C>T | |
| ENST00000329478.4:c.548C>T (ADAT3) MANE Select | ENSP00000332448.2:p.Thr183Met | |
| ENST00000316097.12:c.-41-2384C>T (SCAMP4) | ENSP00000316007.7:n.-41-2384C>T | |
| ENST00000329478.3:c.548C>T (ADAT3) | ENSP00000332448.2:p.Thr183Met | |
| ENST00000409472.5:c.-41-2384C>T (SCAMP4) | ENSP00000386865.1:n.-41-2384C>T | |
| ENST00000411971.5:c.-41-2384C>T (SCAMP4) | ENSP00000388185.2:n.-41-2384C>T | |
| ENST00000414057.6:c.-125-5099C>T (SCAMP4) | ENSP00000479672.1:n.-125-5099C>T | |
| ENST00000452128.6:n.69-2384C>T (SCAMP4) | ||
| ENST00000460767.5:c.-41-2384C>T (SCAMP4) | ENSP00000481989.1:n.-41-2384C>T | |
| ENST00000489554.1:n.42-2384C>T (SCAMP4) | ||
| ENST00000588907.2:c.-126+3960C>T (SCAMP4) | ENSP00000478264.1:n.-126+3960C>T | |
| NM_079834.2:c.-41-2384C>T (SCAMP4) | NP_524558.1:n.-41-2384C>T | |
| NM_138422.2:c.548C>T (ADAT3) | NP_612431.2:p.Thr183Met | |
| NM_001329533.1:c.500C>T (ADAT3) | NP_001316462.1:p.Thr167Met | |
| NM_001329539.1:c.-125-5099C>T (SCAMP4) | NP_001316468.1:n.-125-5099C>T | |
| NM_001329540.1:c.-41-2384C>T (SCAMP4) | NP_001316469.1:n.-41-2384C>T | |
| NM_079834.3:c.-41-2384C>T (SCAMP4) | NP_524558.1:n.-41-2384C>T | |
| NM_138422.3:c.548C>T (ADAT3) | NP_612431.2:p.Thr183Met | |
| NM_079834.4:c.-41-2384C>T (SCAMP4) MANE Select | NP_524558.1:n.-41-2384C>T | |
| NM_138422.4:c.548C>T (ADAT3) MANE Select | NP_612431.2:p.Thr183Met | |
| NM_001329533.2:c.500C>T (ADAT3) | NP_001316462.1:p.Thr167Met | |
| NM_001329539.2:c.-125-5099C>T (SCAMP4) | NP_001316468.1:n.-125-5099C>T | |
| NM_001329540.2:c.-41-2384C>T (SCAMP4) | NP_001316469.1:n.-41-2384C>T |