Linked Data
ClinVar Variation Id:
2186441
dbSNP Id:
rs778397784
ExAC:
10:50819950 C / T
gnomAD v2:
10-50819950-C-T
gnomAD v3:
10-49611904-C-T
gnomAD v4:
10-49611904-C-T
COSMIC:
COSM5517408
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.49611904C>T , CM000672.2:g.49611904C>T | GRCh38 |
| NC_000010.10:g.50819950C>T , CM000672.1:g.50819950C>T | GRCh37 |
| NC_000010.9:g.50489956C>T | NCBI36 |
| NG_011797.1:g.7810C>T | |
| NG_053144.1:g.6604C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374115.5:c.1164C>T (SLC18A3) MANE Select | ENSP00000363229.3:p.Cys388= | |
| ENST00000339797.5:c.-69+2705C>T (CHAT) | ENSP00000343486.1:n.-69+2705C>T | |
| ENST00000374115.4:c.1164C>T (SLC18A3) | ENSP00000363229.3:p.Cys388= | |
| NM_003055.2:c.1164C>T (SLC18A3) | NP_003046.2:p.Cys388= | |
| NM_020984.3:c.-69+2705C>T (CHAT) | NP_066264.3:n.-69+2705C>T | |
| NM_003055.3:c.1164C>T (SLC18A3) MANE Select | NP_003046.2:p.Cys388= | |
| NM_020984.4:c.-69+2705C>T (CHAT) | NP_066264.4:n.-69+2705C>T |