Linked Data
dbSNP Id:
rs750621434
ExAC:
10:50818993 G / C
gnomAD v2:
10-50818993-G-C
gnomAD v4:
10-49610947-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.49610947G>C , CM000672.2:g.49610947G>C | GRCh38 |
| NC_000010.10:g.50818993G>C , CM000672.1:g.50818993G>C | GRCh37 |
| NC_000010.9:g.50488999G>C | NCBI36 |
| NG_011797.1:g.6853G>C | |
| NG_053144.1:g.5647G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374115.5:c.207G>C (SLC18A3) MANE Select | ENSP00000363229.3:p.Glu69Asp | |
| ENST00000339797.5:c.-69+1748G>C (CHAT) | ENSP00000343486.1:n.-69+1748G>C | |
| ENST00000374115.4:c.207G>C (SLC18A3) | ENSP00000363229.3:p.Glu69Asp | |
| NM_003055.2:c.207G>C (SLC18A3) | NP_003046.2:p.Glu69Asp | |
| NM_020984.3:c.-69+1748G>C (CHAT) | NP_066264.3:n.-69+1748G>C | |
| NM_003055.3:c.207G>C (SLC18A3) MANE Select | NP_003046.2:p.Glu69Asp | |
| NM_020984.4:c.-69+1748G>C (CHAT) | NP_066264.4:n.-69+1748G>C |