HGVS | Genome Assembly |
---|---|
NC_000006.12:g.3225313G>C , CM000668.2:g.3225313G>C | GRCh38 |
NC_000006.11:g.3225547G>C , CM000668.1:g.3225547G>C | GRCh37 |
NC_000006.10:g.3170546G>C | NCBI36 |
NG_016715.1:g.7422C>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000259818.8:c.776C>G MANE Select | ENSP00000259818.6:p.Pro259Arg | |
ENST00000680070.1:n.1706C>G | ||
ENST00000681707.1:n.1603C>G | ||
ENST00000681757.1:n.1081C>G | ||
ENST00000259818.7:c.776C>G | ENSP00000259818.6:p.Pro259Arg | |
ENST00000473006.1:n.893C>G | ||
NM_178012.4:c.776C>G | NP_821080.1:p.Pro259Arg | |
XM_011514571.1:c.560C>G | XP_011512873.1:p.Pro187Arg | |
NM_178012.5:c.776C>G MANE Select | NP_821080.1:p.Pro259Arg |