HGVS | Genome Assembly |
---|---|
NC_000010.11:g.49611690A>G , CM000672.2:g.49611690A>G | GRCh38 |
NC_000010.10:g.50819736A>G , CM000672.1:g.50819736A>G | GRCh37 |
NC_000010.9:g.50489742A>G | NCBI36 |
NG_011797.1:g.7596A>G | |
NG_053144.1:g.6390A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000374115.5:c.950A>G (SLC18A3) MANE Select | ENSP00000363229.3:p.Lys317Arg | |
ENST00000339797.5:c.-69+2491A>G (CHAT) | ENSP00000343486.1:n.-69+2491A>G | |
ENST00000374115.4:c.950A>G (SLC18A3) | ENSP00000363229.3:p.Lys317Arg | |
NM_003055.2:c.950A>G (SLC18A3) | NP_003046.2:p.Lys317Arg | |
NM_020984.3:c.-69+2491A>G (CHAT) | NP_066264.3:n.-69+2491A>G | |
NM_003055.3:c.950A>G (SLC18A3) MANE Select | NP_003046.2:p.Lys317Arg | |
NM_020984.4:c.-69+2491A>G (CHAT) | NP_066264.4:n.-69+2491A>G |