HGVS | Genome Assembly |
---|---|
NC_000012.12:g.52652006T>A , CM000674.2:g.52652006T>A | GRCh38 |
NC_000012.11:g.53045790T>A , CM000674.1:g.53045790T>A | GRCh37 |
NC_000012.10:g.51332057T>A | NCBI36 |
NG_008296.1:g.5170A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000309680.4:c.137A>T MANE Select | ENSP00000310861.3:p.His46Leu | |
ENST00000309680.3:c.137A>T | ENSP00000310861.3:p.His46Leu | |
NM_000423.2:c.137A>T | NP_000414.2:p.His46Leu | |
NM_000423.3:c.137A>T MANE Select | NP_000414.2:p.His46Leu |