HGVS | Genome Assembly |
---|---|
NC_000003.12:g.190388140G>A , CM000665.2:g.190388140G>A | GRCh38 |
NC_000003.11:g.190105929G>A , CM000665.1:g.190105929G>A | GRCh37 |
NC_000003.10:g.191588623G>A | NCBI36 |
NG_008149.1:g.5089G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000456423.2:c.-190G>A | ENSP00000414136.2:n.-190G>A | |
ENST00000264734.2:c.21G>A | ENSP00000264734.2:p.Leu7= | |
ENST00000456423.1:c.21G>A | ENSP00000414136.1:p.Leu7= | |
ENST00000468220.1:n.306+13537G>A | ||
NM_006580.3:c.21G>A | NP_006571.1:p.Leu7= | |
NM_001378492.1:c.-93-97G>A | NP_001365421.1:n.-93-97G>A | |
NM_001378493.1:c.-93-97G>A | NP_001365422.1:n.-93-97G>A |