HGVS | Genome Assembly |
---|---|
NC_000003.12:g.147413681T= , CM000665.2:g.147413681T= | GRCh38 |
NC_000003.11:g.147131468T= , CM000665.1:g.147131468T= | GRCh37 |
NC_000003.10:g.148614158T= | NCBI36 |
NG_015886.1:g.9288T= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000282928.5:c.*130T= MANE Select | ENSP00000282928.4:n.*130T= | |
ENST00000282928.4:c.*130T= | ENSP00000282928.4:n.*130T= | |
ENST00000472523.1:n.521+19739T= | ||
NM_003412.3:c.*130T= | NP_003403.2:n.*130T= | |
NM_003412.4:c.*130T= MANE Select | NP_003403.2:n.*130T= |