HGVS | Genome Assembly |
---|---|
NC_000003.12:g.190388134C>G , CM000665.2:g.190388134C>G | GRCh38 |
NC_000003.11:g.190105923C>G , CM000665.1:g.190105923C>G | GRCh37 |
NC_000003.10:g.191588617C>G | NCBI36 |
NG_008149.1:g.5083C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000456423.2:c.-196C>G | ENSP00000414136.2:n.-196C>G | |
ENST00000264734.2:c.15C>G | ENSP00000264734.2:p.Thr5= | |
ENST00000456423.1:c.15C>G | ENSP00000414136.1:p.Thr5= | |
ENST00000468220.1:n.306+13531C>G | ||
NM_006580.3:c.15C>G | NP_006571.1:p.Thr5= | |
NM_001378492.1:c.-93-103C>G | NP_001365421.1:n.-93-103C>G | |
NM_001378493.1:c.-93-103C>G | NP_001365422.1:n.-93-103C>G |