HGVS | Genome Assembly |
---|---|
NC_000003.12:g.190388112T>A , CM000665.2:g.190388112T>A | GRCh38 |
NC_000003.11:g.190105901T>A , CM000665.1:g.190105901T>A | GRCh37 |
NC_000003.10:g.191588595T>A | NCBI36 |
NG_008149.1:g.5061T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000264734.2:c.-8T>A | ENSP00000264734.2:n.-8T>A | |
ENST00000468220.1:n.306+13509T>A | ||
NM_006580.3:c.-8T>A | NP_006571.1:n.-8T>A | |
NM_001378492.1:c.-93-125T>A | NP_001365421.1:n.-93-125T>A | |
NM_001378493.1:c.-93-125T>A | NP_001365422.1:n.-93-125T>A |