HGVS | Genome Assembly |
---|---|
NC_000006.12:g.3225496T>G , CM000668.2:g.3225496T>G | GRCh38 |
NC_000006.11:g.3225730T>G , CM000668.1:g.3225730T>G | GRCh37 |
NC_000006.10:g.3170729T>G | NCBI36 |
NG_016715.1:g.7239A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000259818.8:c.593A>C MANE Select | ENSP00000259818.6:p.Glu198Ala | |
ENST00000680070.1:n.1523A>C | ||
ENST00000681707.1:n.1420A>C | ||
ENST00000681757.1:n.898A>C | ||
ENST00000259818.7:c.593A>C | ENSP00000259818.6:p.Glu198Ala | |
ENST00000473006.1:n.710A>C | ||
NM_178012.4:c.593A>C | NP_821080.1:p.Glu198Ala | |
XM_011514571.1:c.377A>C | XP_011512873.1:p.Glu126Ala | |
NM_178012.5:c.593A>C MANE Select | NP_821080.1:p.Glu198Ala |