HGVS | Genome Assembly |
---|---|
NC_000010.11:g.43130254C>A , CM000672.2:g.43130254C>A | GRCh38 |
NC_000010.10:g.43625702C>A , CM000672.1:g.43625702C>A | GRCh37 |
NC_000010.9:g.42945708C>A | NCBI36 |
NG_007489.1:g.58186C>A , LRG_518:g.58186C>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000615310.5:c.*3500C>A | ENSP00000480088.2:n.*3500C>A | |
ENST00000683007.1:n.6293C>A | ||
ENST00000355710.8:c.*1985C>A MANE Select | ENSP00000347942.3:n.*1985C>A | |
ENST00000355710.7:c.*1985C>A | ENSP00000347942.3:n.*1985C>A | |
ENST00000615310.4:c.*2679C>A | ENSP00000480088.1:n.*2679C>A | |
NM_020975.4:c.*1985C>A , LRG_518t1:c.*1985C>A | NP_066124.1:n.*1985C>A | |
XM_011540027.1:c.*753C>A | XP_011538329.1:n.*753C>A | |
NM_020975.5:c.*1985C>A | NP_066124.1:n.*1985C>A | |
NM_020975.6:c.*1985C>A MANE Select | NP_066124.1:n.*1985C>A |