HGVS | Genome Assembly |
---|---|
NC_000003.12:g.190387983C>G , CM000665.2:g.190387983C>G | GRCh38 |
NC_000003.11:g.190105772C>G , CM000665.1:g.190105772C>G | GRCh37 |
NC_000003.10:g.191588466C>G | NCBI36 |
NG_008149.1:g.4932C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000264734.2:c.-137C>G | ENSP00000264734.2:n.-137C>G | |
ENST00000468220.1:n.306+13380C>G | ||
NM_006580.3:c.-137C>G | NP_006571.1:n.-137C>G | |
NM_001378492.1:c.-93-254C>G | NP_001365421.1:n.-93-254C>G | |
NM_001378493.1:c.-93-254C>G | NP_001365422.1:n.-93-254C>G |