HGVS | Genome Assembly |
---|---|
NC_000010.11:g.87709222A>T , CM000672.2:g.87709222A>T | GRCh38 |
NC_000010.10:g.89468979A>T , CM000672.1:g.89468979A>T | GRCh37 |
NC_000010.9:g.89458959A>T | NCBI36 |
NG_012150.1:g.54504A>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000456849.2:c.54A>T MANE Select | ENSP00000406157.1:p.Val18= | |
ENST00000361175.8:c.54A>T | ENSP00000354436.4:p.Val18= | |
ENST00000456849.1:c.54A>T | ENSP00000406157.1:p.Val18= | |
ENST00000465996.5:n.76A>T | ||
ENST00000482258.1:n.97A>T | ||
NM_001015880.1:c.54A>T | NP_001015880.1:p.Val18= | |
NM_004670.3:c.54A>T | NP_004661.2:p.Val18= | |
NM_001015880.2:c.54A>T MANE Select | NP_001015880.1:p.Val18= | |
NM_004670.4:c.54A>T | NP_004661.2:p.Val18= |