HGVS | Genome Assembly |
---|---|
NC_000010.11:g.122506751G>T , CM000672.2:g.122506751G>T | GRCh38 |
NC_000010.10:g.124266267G>T , CM000672.1:g.124266267G>T | GRCh37 |
NC_000010.9:g.124256257G>T | NCBI36 |
NG_011554.1:g.50227G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000368984.8:c.838G>T MANE Select | ENSP00000357980.3:p.Val280Phe | |
ENST00000648167.1:c.520G>T | ENSP00000498033.1:p.Val174Phe | |
ENST00000368984.7:c.838G>T | ENSP00000357980.3:p.Val280Phe | |
ENST00000420892.1:c.61G>T | ENSP00000412676.1:p.Val21Phe | |
NM_002775.4:c.838G>T | NP_002766.1:p.Val280Phe | |
NM_002775.5:c.838G>T MANE Select | NP_002766.1:p.Val280Phe |