HGVS | Genome Assembly |
---|---|
NC_000019.10:g.7525092A>T , CM000681.2:g.7525092A>T | GRCh38 |
NC_000019.9:g.7589978A>T , CM000681.1:g.7589978A>T | GRCh37 |
NC_000019.8:g.7495978A>T | NCBI36 |
NG_015806.1:g.7483A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000264079.11:c.163A>T MANE Select | ENSP00000264079.5:p.Lys55Ter | |
ENST00000264079.10:c.163A>T | ENSP00000264079.5:p.Lys55Ter | |
ENST00000394321.9:n.243A>T | ||
ENST00000596390.1:n.279A>T | ||
ENST00000601003.1:c.163A>T | ENSP00000469074.1:p.Lys55Ter | |
NM_020533.2:c.163A>T | NP_065394.1:p.Lys55Ter | |
NM_020533.3:c.163A>T MANE Select | NP_065394.1:p.Lys55Ter |