HGVS | Genome Assembly |
---|---|
NC_000020.11:g.10413087T>A , CM000682.2:g.10413087T>A | GRCh38 |
NC_000020.10:g.10393735T>A , CM000682.1:g.10393735T>A | GRCh37 |
NC_000020.9:g.10341735T>A | NCBI36 |
NG_009109.1:g.26132A>T | |
NG_009109.2:g.26132A>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000651692.1:c.428A>T | ENSP00000498849.1:p.Asp143Val | |
ENST00000652676.1:n.459-387A>T | ||
ENST00000347364.7:c.428A>T MANE Select | ENSP00000246062.4:p.Asp143Val | |
ENST00000399054.6:c.428A>T | ENSP00000382008.2:p.Asp143Val | |
NM_018848.3:c.428A>T | NP_061336.1:p.Asp143Val | |
NM_170784.2:c.428A>T | NP_740754.1:p.Asp143Val | |
NR_072977.1:n.364-4284A>T | ||
NR_072977.2:n.347-4284A>T | ||
NM_170784.3:c.428A>T MANE Select | NP_740754.1:p.Asp143Val |