HGVS | Genome Assembly |
---|---|
NC_000003.12:g.190388002C>T , CM000665.2:g.190388002C>T | GRCh38 |
NC_000003.11:g.190105791C>T , CM000665.1:g.190105791C>T | GRCh37 |
NC_000003.10:g.191588485C>T | NCBI36 |
NG_008149.1:g.4951C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000264734.2:c.-118C>T | ENSP00000264734.2:n.-118C>T | |
ENST00000468220.1:n.306+13399C>T | ||
NM_006580.3:c.-118C>T | NP_006571.1:n.-118C>T | |
NM_001378492.1:c.-93-235C>T | NP_001365421.1:n.-93-235C>T | |
NM_001378493.1:c.-93-235C>T | NP_001365422.1:n.-93-235C>T |