HGVS | Genome Assembly |
---|---|
NC_000006.12:g.3225586C>G , CM000668.2:g.3225586C>G | GRCh38 |
NC_000006.11:g.3225820C>G , CM000668.1:g.3225820C>G | GRCh37 |
NC_000006.10:g.3170819C>G | NCBI36 |
NG_016715.1:g.7149G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000259818.8:c.503G>C MANE Select | ENSP00000259818.6:p.Ser168Thr | |
ENST00000680070.1:n.1433G>C | ||
ENST00000681707.1:n.1330G>C | ||
ENST00000681757.1:n.808G>C | ||
ENST00000259818.7:c.503G>C | ENSP00000259818.6:p.Ser168Thr | |
ENST00000473006.1:n.620G>C | ||
NM_178012.4:c.503G>C | NP_821080.1:p.Ser168Thr | |
XM_011514571.1:c.287G>C | XP_011512873.1:p.Ser96Thr | |
NM_178012.5:c.503G>C MANE Select | NP_821080.1:p.Ser168Thr |