HGVS | Genome Assembly |
---|---|
NC_000010.11:g.14819402C>T , CM000672.2:g.14819402C>T | GRCh38 |
NC_000010.10:g.14861401C>T , CM000672.1:g.14861401C>T | GRCh37 |
NC_000010.9:g.14901407C>T | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000465530.2:c.*578G>A MANE Select | ENSP00000419395.1:n.*578G>A | |
ENST00000378442.5:c.*578G>A | ENSP00000367703.1:n.*578G>A | |
NM_001029954.2:c.*578G>A | NP_001025125.2:n.*578G>A | |
XM_011519488.1:c.*578G>A | XP_011517790.1:n.*578G>A | |
XM_011519489.1:c.*755G>A | XP_011517791.1:n.*755G>A | |
XM_011519488.2:c.*578G>A | XP_011517790.1:n.*578G>A | |
NM_001029954.3:c.*578G>A MANE Select | NP_001025125.2:n.*578G>A |