HGVS | Genome Assembly |
---|---|
NC_000010.11:g.122461890G>T , CM000672.2:g.122461890G>T | GRCh38 |
NC_000010.10:g.124221406G>T , CM000672.1:g.124221406G>T | GRCh37 |
NC_000010.9:g.124211396G>T | NCBI36 |
NG_011554.1:g.5366G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000368984.8:c.238G>T MANE Select | ENSP00000357980.3:p.Glu80Ter | |
ENST00000648167.1:c.154+3181G>T | ENSP00000498033.1:n.154+3181G>T | |
ENST00000368984.7:c.238G>T | ENSP00000357980.3:p.Glu80Ter | |
NM_002775.4:c.238G>T | NP_002766.1:p.Glu80Ter | |
NM_002775.5:c.238G>T MANE Select | NP_002766.1:p.Glu80Ter |