Linked Data
ClinVar Variation Id:
501475
ClinVar RCV Id:
RCV000593679
dbSNP Id:
rs933590538
gnomAD v2:
19-1912320-A-C
gnomAD v3:
19-1912321-A-C
gnomAD v4:
19-1912321-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1912321A>C , CM000681.2:g.1912321A>C | GRCh38 |
| NC_000019.9:g.1912320A>C , CM000681.1:g.1912320A>C | GRCh37 |
| NC_000019.8:g.1863320A>C | NCBI36 |
| NG_051211.1:g.12108A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409472.6:c.-41-2658A>C (SCAMP4) | ENSP00000386865.1:n.-41-2658A>C | |
| ENST00000316097.13:c.-41-2658A>C (SCAMP4) MANE Select | ENSP00000316007.7:n.-41-2658A>C | |
| ENST00000329478.4:c.274A>C (ADAT3) MANE Select | ENSP00000332448.2:p.Lys92Gln | |
| ENST00000316097.12:c.-41-2658A>C (SCAMP4) | ENSP00000316007.7:n.-41-2658A>C | |
| ENST00000329478.3:c.274A>C (ADAT3) | ENSP00000332448.2:p.Lys92Gln | |
| ENST00000409472.5:c.-41-2658A>C (SCAMP4) | ENSP00000386865.1:n.-41-2658A>C | |
| ENST00000411971.5:c.-41-2658A>C (SCAMP4) | ENSP00000388185.2:n.-41-2658A>C | |
| ENST00000414057.6:c.-125-5373A>C (SCAMP4) | ENSP00000479672.1:n.-125-5373A>C | |
| ENST00000452128.6:n.69-2658A>C (SCAMP4) | ||
| ENST00000460767.5:c.-41-2658A>C (SCAMP4) | ENSP00000481989.1:n.-41-2658A>C | |
| ENST00000489554.1:n.42-2658A>C (SCAMP4) | ||
| ENST00000588907.2:c.-126+3686A>C (SCAMP4) | ENSP00000478264.1:n.-126+3686A>C | |
| NM_079834.2:c.-41-2658A>C (SCAMP4) | NP_524558.1:n.-41-2658A>C | |
| NM_138422.2:c.274A>C (ADAT3) | NP_612431.2:p.Lys92Gln | |
| NM_001329533.1:c.226A>C (ADAT3) | NP_001316462.1:p.Lys76Gln | |
| NM_001329539.1:c.-125-5373A>C (SCAMP4) | NP_001316468.1:n.-125-5373A>C | |
| NM_001329540.1:c.-41-2658A>C (SCAMP4) | NP_001316469.1:n.-41-2658A>C | |
| NM_079834.3:c.-41-2658A>C (SCAMP4) | NP_524558.1:n.-41-2658A>C | |
| NM_138422.3:c.274A>C (ADAT3) | NP_612431.2:p.Lys92Gln | |
| NM_079834.4:c.-41-2658A>C (SCAMP4) MANE Select | NP_524558.1:n.-41-2658A>C | |
| NM_138422.4:c.274A>C (ADAT3) MANE Select | NP_612431.2:p.Lys92Gln | |
| NM_001329533.2:c.226A>C (ADAT3) | NP_001316462.1:p.Lys76Gln | |
| NM_001329539.2:c.-125-5373A>C (SCAMP4) | NP_001316468.1:n.-125-5373A>C | |
| NM_001329540.2:c.-41-2658A>C (SCAMP4) | NP_001316469.1:n.-41-2658A>C |