HGVS | Genome Assembly |
---|---|
NC_000010.11:g.122506798G>T , CM000672.2:g.122506798G>T | GRCh38 |
NC_000010.10:g.124266314G>T , CM000672.1:g.124266314G>T | GRCh37 |
NC_000010.9:g.124256304G>T | NCBI36 |
NG_011554.1:g.50274G>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000368984.8:c.885G>T MANE Select | ENSP00000357980.3:p.Gly295= | |
ENST00000648167.1:c.567G>T | ENSP00000498033.1:p.Gly189= | |
ENST00000368984.7:c.885G>T | ENSP00000357980.3:p.Gly295= | |
ENST00000420892.1:c.108G>T | ENSP00000412676.1:p.Gly36= | |
NM_002775.4:c.885G>T | NP_002766.1:p.Gly295= | |
NM_002775.5:c.885G>T MANE Select | NP_002766.1:p.Gly295= |