HGVS | Genome Assembly |
---|---|
NC_000019.10:g.48419729T>G , CM000681.2:g.48419729T>G | GRCh38 |
NC_000019.9:g.48922986T>G , CM000681.1:g.48922986T>G | GRCh37 |
NC_000019.8:g.53614798T>G | NCBI36 |
NG_052829.1:g.29855T>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000263269.4:c.2006T>G MANE Select | ENSP00000263269.2:p.Phe669Cys | |
ENST00000263269.3:c.2006T>G | ENSP00000263269.2:p.Phe669Cys | |
NM_000836.2:c.2006T>G | NP_000827.2:p.Phe669Cys | |
XM_011526872.1:c.2006T>G | XP_011525174.1:p.Phe669Cys | |
NM_000836.4:c.2006T>G MANE Select | NP_000827.2:p.Phe669Cys |