HGVS | Genome Assembly |
---|---|
NC_000001.11:g.169511985C>T , CM000663.2:g.169511985C>T | GRCh38 |
NC_000001.10:g.169481223C>T , CM000663.1:g.169481223C>T | GRCh37 |
NC_000001.9:g.167747847C>T | NCBI36 |
NG_011806.1:g.79547G>A , LRG_553:g.79547G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000367797.9:c.*2328G>A MANE Select | ENSP00000356771.3:n.*2328G>A | |
NM_000130.4:c.*2328G>A , LRG_553t1:c.*2328G>A | NP_000121.2:n.*2328G>A | |
XM_017000660.2:c.*2328G>A | XP_016856149.1:n.*2328G>A | |
NM_000130.5:c.*2328G>A MANE Select | NP_000121.2:n.*2328G>A |