HGVS | Genome Assembly |
---|---|
NC_000015.10:g.73367849T>A , CM000677.2:g.73367849T>A | GRCh38 |
NC_000015.9:g.73660190T>A , CM000677.1:g.73660190T>A | GRCh37 |
NC_000015.8:g.71447243T>A | NCBI36 |
NG_009063.1:g.6416A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000261917.4:c.422A>T MANE Select | ENSP00000261917.3:p.Glu141Val | |
ENST00000261917.3:c.422A>T | ENSP00000261917.3:p.Glu141Val | |
NM_005477.2:c.422A>T | NP_005468.1:p.Glu141Val | |
NM_005477.3:c.422A>T MANE Select | NP_005468.1:p.Glu141Val |