HGVS | Genome Assembly |
---|---|
NC_000003.12:g.190388137A>T , CM000665.2:g.190388137A>T | GRCh38 |
NC_000003.11:g.190105926A>T , CM000665.1:g.190105926A>T | GRCh37 |
NC_000003.10:g.191588620A>T | NCBI36 |
NG_008149.1:g.5086A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000456423.2:c.-193A>T | ENSP00000414136.2:n.-193A>T | |
ENST00000264734.2:c.18A>T | ENSP00000264734.2:p.Pro6= | |
ENST00000456423.1:c.18A>T | ENSP00000414136.1:p.Pro6= | |
ENST00000468220.1:n.306+13534A>T | ||
NM_006580.3:c.18A>T | NP_006571.1:p.Pro6= | |
NM_001378492.1:c.-93-100A>T | NP_001365421.1:n.-93-100A>T | |
NM_001378493.1:c.-93-100A>T | NP_001365422.1:n.-93-100A>T |