HGVS | Genome Assembly |
---|---|
NC_000003.12:g.81646456T>A , CM000665.2:g.81646456T>A | GRCh38 |
NC_000003.11:g.81695607T>A , CM000665.1:g.81695607T>A | GRCh37 |
NC_000003.10:g.81778297T>A | NCBI36 |
NG_011810.1:g.120345A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000429644.7:c.718A>T MANE Select | ENSP00000410833.2:p.Ile240Phe | |
ENST00000429644.6:c.718A>T | ENSP00000410833.2:p.Ile240Phe | |
ENST00000489715.1:c.595A>T | ENSP00000419638.1:p.Ile199Phe | |
ENST00000498468.1:n.268A>T | ||
NM_000158.3:c.718A>T | NP_000149.3:p.Ile240Phe | |
NM_000158.4:c.718A>T MANE Select | NP_000149.4:p.Ile240Phe |