HGVS | Genome Assembly |
---|---|
NC_000003.12:g.147413207C= , CM000665.2:g.147413207C= | GRCh38 |
NC_000003.11:g.147130994C= , CM000665.1:g.147130994C= | GRCh37 |
NC_000003.10:g.148613684C= | NCBI36 |
NG_015886.1:g.8814C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000282928.5:c.1147-147C= MANE Select | ENSP00000282928.4:n.1147-147C= | |
ENST00000282928.4:c.1147-147C= | ENSP00000282928.4:n.1147-147C= | |
ENST00000472523.1:n.521+19265C= | ||
ENST00000488404.5:c.213-147C= | ||
NM_003412.3:c.1147-147C= | NP_003403.2:n.1147-147C= | |
NM_003412.4:c.1147-147C= MANE Select | NP_003403.2:n.1147-147C= |