HGVS | Genome Assembly |
---|---|
NC_000003.12:g.39514089A>G , CM000665.2:g.39514089A>G | GRCh38 |
NC_000003.11:g.39555580A>G , CM000665.1:g.39555580A>G | GRCh37 |
NC_000003.10:g.39530584A>G | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000311042.10:c.*706A>G | ENSP00000312293.6:n.*706A>G | |
ENST00000383754.7:c.*667A>G | ENSP00000373261.3:n.*667A>G | |
ENST00000424090.5:c.*258+483A>G | ENSP00000389055.1:n.*258+483A>G | |
ENST00000442631.5:c.*223+483A>G | ENSP00000413771.1:n.*223+483A>G | |
ENST00000452959.6:c.*184+483A>G | ENSP00000405549.1:n.*184+483A>G | |
ENST00000479860.1:n.285+483A>G | ||
NM_001278322.1:c.*706A>G | NP_001265251.1:n.*706A>G | |
NM_182935.3:c.*667A>G | NP_891980.1:n.*667A>G | |
NR_003090.2:n.686+483A>G | ||
NR_103504.1:n.1028+483A>G | ||
NR_103505.1:n.1066+483A>G | ||
NR_103506.1:n.959A>G | ||
NM_001278322.2:c.*706A>G | NP_001265251.1:n.*706A>G | |
NM_182935.4:c.*667A>G | NP_891980.1:n.*667A>G | |
NR_003090.3:n.579+483A>G | ||
NR_103504.2:n.921+483A>G | ||
NR_103505.2:n.959+483A>G | ||
NR_103506.2:n.852A>G |