HGVS | Genome Assembly |
---|---|
NC_000005.10:g.136055688C>G , CM000667.2:g.136055688C>G | GRCh38 |
NC_000005.9:g.135391377C>G , CM000667.1:g.135391377C>G | GRCh37 |
NC_000005.8:g.135419276C>G | NCBI36 |
NG_012646.1:g.31794C>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000442011.7:c.1419C>G MANE Select | ENSP00000416330.2:p.Cys473Trp | |
ENST00000442011.6:c.1419C>G | ENSP00000416330.2:p.Cys473Trp | |
ENST00000506699.5:n.1936C>G | ||
ENST00000507018.5:c.1397C>G | ||
ENST00000509485.5:c.334C>G | ||
ENST00000514242.5:n.190C>G | ||
ENST00000514554.5:c.571C>G | ||
NM_000358.2:c.1419C>G | NP_000349.1:p.Cys473Trp | |
NM_000358.3:c.1419C>G MANE Select | NP_000349.1:p.Cys473Trp |