Linked Data
ClinVar Variation Id:
1945253
ClinVar RCV Id:
RCV002667087
dbSNP Id:
rs747324702
ExAC:
10:50819030 C / T
gnomAD v2:
10-50819030-C-T
gnomAD v3:
10-49610984-C-T
gnomAD v4:
10-49610984-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.49610984C>T , CM000672.2:g.49610984C>T | GRCh38 |
| NC_000010.10:g.50819030C>T , CM000672.1:g.50819030C>T | GRCh37 |
| NC_000010.9:g.50489036C>T | NCBI36 |
| NG_011797.1:g.6890C>T | |
| NG_053144.1:g.5684C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374115.5:c.244C>T (SLC18A3) MANE Select | ENSP00000363229.3:p.Leu82= | |
| ENST00000339797.5:c.-69+1785C>T (CHAT) | ENSP00000343486.1:n.-69+1785C>T | |
| ENST00000374115.4:c.244C>T (SLC18A3) | ENSP00000363229.3:p.Leu82= | |
| NM_003055.2:c.244C>T (SLC18A3) | NP_003046.2:p.Leu82= | |
| NM_020984.3:c.-69+1785C>T (CHAT) | NP_066264.3:n.-69+1785C>T | |
| NM_003055.3:c.244C>T (SLC18A3) MANE Select | NP_003046.2:p.Leu82= | |
| NM_020984.4:c.-69+1785C>T (CHAT) | NP_066264.4:n.-69+1785C>T |