Linked Data
ClinVar Variation Id:
183301
dbSNP Id:
rs730882213
gnomAD v2:
19-1912476-G-A
gnomAD v3:
19-1912477-G-A
gnomAD v4:
19-1912477-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1912477G>A , CM000681.2:g.1912477G>A | GRCh38 |
| NC_000019.9:g.1912476G>A , CM000681.1:g.1912476G>A | GRCh37 |
| NC_000019.8:g.1863476G>A | NCBI36 |
| NG_051211.1:g.12264G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409472.6:c.-41-2502G>A (SCAMP4) | ENSP00000386865.1:n.-41-2502G>A | |
| ENST00000316097.13:c.-41-2502G>A (SCAMP4) MANE Select | ENSP00000316007.7:n.-41-2502G>A | |
| ENST00000329478.4:c.430G>A (ADAT3) MANE Select | ENSP00000332448.2:p.Val144Met | |
| ENST00000316097.12:c.-41-2502G>A (SCAMP4) | ENSP00000316007.7:n.-41-2502G>A | |
| ENST00000329478.3:c.430G>A (ADAT3) | ENSP00000332448.2:p.Val144Met | |
| ENST00000409472.5:c.-41-2502G>A (SCAMP4) | ENSP00000386865.1:n.-41-2502G>A | |
| ENST00000411971.5:c.-41-2502G>A (SCAMP4) | ENSP00000388185.2:n.-41-2502G>A | |
| ENST00000414057.6:c.-125-5217G>A (SCAMP4) | ENSP00000479672.1:n.-125-5217G>A | |
| ENST00000452128.6:n.69-2502G>A (SCAMP4) | ||
| ENST00000460767.5:c.-41-2502G>A (SCAMP4) | ENSP00000481989.1:n.-41-2502G>A | |
| ENST00000489554.1:n.42-2502G>A (SCAMP4) | ||
| ENST00000588907.2:c.-126+3842G>A (SCAMP4) | ENSP00000478264.1:n.-126+3842G>A | |
| NM_079834.2:c.-41-2502G>A (SCAMP4) | NP_524558.1:n.-41-2502G>A | |
| NM_138422.2:c.430G>A (ADAT3) | NP_612431.2:p.Val144Met | |
| NM_001329533.1:c.382G>A (ADAT3) | NP_001316462.1:p.Val128Met | |
| NM_001329539.1:c.-125-5217G>A (SCAMP4) | NP_001316468.1:n.-125-5217G>A | |
| NM_001329540.1:c.-41-2502G>A (SCAMP4) | NP_001316469.1:n.-41-2502G>A | |
| NM_079834.3:c.-41-2502G>A (SCAMP4) | NP_524558.1:n.-41-2502G>A | |
| NM_138422.3:c.430G>A (ADAT3) | NP_612431.2:p.Val144Met | |
| NM_079834.4:c.-41-2502G>A (SCAMP4) MANE Select | NP_524558.1:n.-41-2502G>A | |
| NM_138422.4:c.430G>A (ADAT3) MANE Select | NP_612431.2:p.Val144Met | |
| NM_001329533.2:c.382G>A (ADAT3) | NP_001316462.1:p.Val128Met | |
| NM_001329539.2:c.-125-5217G>A (SCAMP4) | NP_001316468.1:n.-125-5217G>A | |
| NM_001329540.2:c.-41-2502G>A (SCAMP4) | NP_001316469.1:n.-41-2502G>A |