HGVS | Genome Assembly |
---|---|
NC_000010.11:g.43130269C>A , CM000672.2:g.43130269C>A | GRCh38 |
NC_000010.10:g.43625717C>A , CM000672.1:g.43625717C>A | GRCh37 |
NC_000010.9:g.42945723C>A | NCBI36 |
NG_007489.1:g.58201C>A , LRG_518:g.58201C>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000615310.5:c.*3515C>A | ENSP00000480088.2:n.*3515C>A | |
ENST00000683007.1:n.6308C>A | ||
ENST00000355710.8:c.*2000C>A MANE Select | ENSP00000347942.3:n.*2000C>A | |
ENST00000355710.7:c.*2000C>A | ENSP00000347942.3:n.*2000C>A | |
ENST00000615310.4:c.*2694C>A | ENSP00000480088.1:n.*2694C>A | |
NM_020975.4:c.*2000C>A , LRG_518t1:c.*2000C>A | NP_066124.1:n.*2000C>A | |
XM_011540027.1:c.*768C>A | XP_011538329.1:n.*768C>A | |
NM_020975.5:c.*2000C>A | NP_066124.1:n.*2000C>A | |
NM_020975.6:c.*2000C>A MANE Select | NP_066124.1:n.*2000C>A |