HGVS | Genome Assembly |
---|---|
NC_000010.11:g.49612008T>C , CM000672.2:g.49612008T>C | GRCh38 |
NC_000010.10:g.50820054T>C , CM000672.1:g.50820054T>C | GRCh37 |
NC_000010.9:g.50490060T>C | NCBI36 |
NG_011797.1:g.7914T>C | |
NG_053144.1:g.6708T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000374115.5:c.1268T>C (SLC18A3) MANE Select | ENSP00000363229.3:p.Ile423Thr | |
ENST00000339797.5:c.-69+2809T>C (CHAT) | ENSP00000343486.1:n.-69+2809T>C | |
ENST00000374115.4:c.1268T>C (SLC18A3) | ENSP00000363229.3:p.Ile423Thr | |
NM_003055.2:c.1268T>C (SLC18A3) | NP_003046.2:p.Ile423Thr | |
NM_020984.3:c.-69+2809T>C (CHAT) | NP_066264.3:n.-69+2809T>C | |
NM_003055.3:c.1268T>C (SLC18A3) MANE Select | NP_003046.2:p.Ile423Thr | |
NM_020984.4:c.-69+2809T>C (CHAT) | NP_066264.4:n.-69+2809T>C |