HGVS | Genome Assembly |
---|---|
NC_000023.11:g.136648273T>G , CM000685.2:g.136648273T>G | GRCh38 |
NC_000023.10:g.135730432T>G , CM000685.1:g.135730432T>G | GRCh37 |
NC_000023.9:g.135558098T>G | NCBI36 |
NG_007280.1:g.5097T>G , LRG_141:g.5097T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000695724.1:c.25T>G | ENSP00000512122.1:p.Ser9Ala | |
ENST00000695725.1:c.25T>G | ENSP00000512123.1:p.Ser9Ala | |
ENST00000695726.1:n.68T>G | ||
ENST00000695727.1:n.12T>G | ||
ENST00000695728.1:n.12T>G | ||
ENST00000370629.7:c.25T>G MANE Select | ENSP00000359663.2:p.Ser9Ala | |
ENST00000370628.2:c.25T>G | ENSP00000359662.2:p.Ser9Ala | |
ENST00000370629.6:c.25T>G | ENSP00000359663.2:p.Ser9Ala | |
NM_000074.2:c.25T>G , LRG_141t1:c.25T>G | NP_000065.1:p.Ser9Ala | |
NM_000074.3:c.25T>G MANE Select | NP_000065.1:p.Ser9Ala |