HGVS | Genome Assembly |
---|---|
NC_000003.12:g.147413589A>T , CM000665.2:g.147413589A>T | GRCh38 |
NC_000003.11:g.147131376A>T , CM000665.1:g.147131376A>T | GRCh37 |
NC_000003.10:g.148614066A>T | NCBI36 |
NG_015886.1:g.9196A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000282928.5:c.*38A>T MANE Select | ENSP00000282928.4:n.*38A>T | |
ENST00000282928.4:c.*38A>T | ENSP00000282928.4:n.*38A>T | |
ENST00000472523.1:n.521+19647A>T | ||
ENST00000488404.5:c.448A>T | ||
NM_003412.3:c.*38A>T | NP_003403.2:n.*38A>T | |
NM_003412.4:c.*38A>T MANE Select | NP_003403.2:n.*38A>T |