HGVS | Genome Assembly |
---|---|
NC_000010.11:g.49611642G>T , CM000672.2:g.49611642G>T | GRCh38 |
NC_000010.10:g.50819688G>T , CM000672.1:g.50819688G>T | GRCh37 |
NC_000010.9:g.50489694G>T | NCBI36 |
NG_011797.1:g.7548G>T | |
NG_053144.1:g.6342G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000374115.5:c.902G>T (SLC18A3) MANE Select | ENSP00000363229.3:p.Cys301Phe | |
ENST00000339797.5:c.-69+2443G>T (CHAT) | ENSP00000343486.1:n.-69+2443G>T | |
ENST00000374115.4:c.902G>T (SLC18A3) | ENSP00000363229.3:p.Cys301Phe | |
NM_003055.2:c.902G>T (SLC18A3) | NP_003046.2:p.Cys301Phe | |
NM_020984.3:c.-69+2443G>T (CHAT) | NP_066264.3:n.-69+2443G>T | |
NM_003055.3:c.902G>T (SLC18A3) MANE Select | NP_003046.2:p.Cys301Phe | |
NM_020984.4:c.-69+2443G>T (CHAT) | NP_066264.4:n.-69+2443G>T |