HGVS | Genome Assembly |
---|---|
NC_000005.10:g.136055688C>A , CM000667.2:g.136055688C>A | GRCh38 |
NC_000005.9:g.135391377C>A , CM000667.1:g.135391377C>A | GRCh37 |
NC_000005.8:g.135419276C>A | NCBI36 |
NG_012646.1:g.31794C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000442011.7:c.1419C>A MANE Select | ENSP00000416330.2:p.Cys473Ter | |
ENST00000442011.6:c.1419C>A | ENSP00000416330.2:p.Cys473Ter | |
ENST00000506699.5:n.1936C>A | ||
ENST00000507018.5:c.1397C>A | ||
ENST00000509485.5:c.334C>A | ||
ENST00000514242.5:n.190C>A | ||
ENST00000514554.5:c.571C>A | ||
NM_000358.2:c.1419C>A | NP_000349.1:p.Cys473Ter | |
NM_000358.3:c.1419C>A MANE Select | NP_000349.1:p.Cys473Ter |