HGVS | Genome Assembly |
---|---|
NC_000006.12:g.3225522G>T , CM000668.2:g.3225522G>T | GRCh38 |
NC_000006.11:g.3225756G>T , CM000668.1:g.3225756G>T | GRCh37 |
NC_000006.10:g.3170755G>T | NCBI36 |
NG_016715.1:g.7213C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000259818.8:c.567C>A MANE Select | ENSP00000259818.6:p.Val189= | |
ENST00000680070.1:n.1497C>A | ||
ENST00000681707.1:n.1394C>A | ||
ENST00000681757.1:n.872C>A | ||
ENST00000259818.7:c.567C>A | ENSP00000259818.6:p.Val189= | |
ENST00000473006.1:n.684C>A | ||
NM_178012.4:c.567C>A | NP_821080.1:p.Val189= | |
XM_011514571.1:c.351C>A | XP_011512873.1:p.Val117= | |
NM_178012.5:c.567C>A MANE Select | NP_821080.1:p.Val189= |