Linked Data
ClinVar Variation Id:
1670378
ClinVar RCV Id:
RCV002203669
dbSNP Id:
rs759417045
ExAC:
10:50819428 G / A
gnomAD v2:
10-50819428-G-A
gnomAD v4:
10-49611382-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.49611382G>A , CM000672.2:g.49611382G>A | GRCh38 |
| NC_000010.10:g.50819428G>A , CM000672.1:g.50819428G>A | GRCh37 |
| NC_000010.9:g.50489434G>A | NCBI36 |
| NG_011797.1:g.7288G>A | |
| NG_053144.1:g.6082G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374115.5:c.642G>A (SLC18A3) MANE Select | ENSP00000363229.3:p.Leu214= | |
| ENST00000339797.5:c.-69+2183G>A (CHAT) | ENSP00000343486.1:n.-69+2183G>A | |
| ENST00000374115.4:c.642G>A (SLC18A3) | ENSP00000363229.3:p.Leu214= | |
| NM_003055.2:c.642G>A (SLC18A3) | NP_003046.2:p.Leu214= | |
| NM_020984.3:c.-69+2183G>A (CHAT) | NP_066264.3:n.-69+2183G>A | |
| NM_003055.3:c.642G>A (SLC18A3) MANE Select | NP_003046.2:p.Leu214= | |
| NM_020984.4:c.-69+2183G>A (CHAT) | NP_066264.4:n.-69+2183G>A |