HGVS | Genome Assembly |
---|---|
NC_000010.11:g.49611999T>C , CM000672.2:g.49611999T>C | GRCh38 |
NC_000010.10:g.50820045T>C , CM000672.1:g.50820045T>C | GRCh37 |
NC_000010.9:g.50490051T>C | NCBI36 |
NG_011797.1:g.7905T>C | |
NG_053144.1:g.6699T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000374115.5:c.1259T>C (SLC18A3) MANE Select | ENSP00000363229.3:p.Val420Ala | |
ENST00000339797.5:c.-69+2800T>C (CHAT) | ENSP00000343486.1:n.-69+2800T>C | |
ENST00000374115.4:c.1259T>C (SLC18A3) | ENSP00000363229.3:p.Val420Ala | |
NM_003055.2:c.1259T>C (SLC18A3) | NP_003046.2:p.Val420Ala | |
NM_020984.3:c.-69+2800T>C (CHAT) | NP_066264.3:n.-69+2800T>C | |
NM_003055.3:c.1259T>C (SLC18A3) MANE Select | NP_003046.2:p.Val420Ala | |
NM_020984.4:c.-69+2800T>C (CHAT) | NP_066264.4:n.-69+2800T>C |