HGVS | Genome Assembly |
---|---|
NC_000005.10:g.136046336C>A , CM000667.2:g.136046336C>A | GRCh38 |
NC_000005.9:g.135382025C>A , CM000667.1:g.135382025C>A | GRCh37 |
NC_000005.8:g.135409924C>A | NCBI36 |
NG_012646.1:g.22442C>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000442011.7:c.300C>A MANE Select | ENSP00000416330.2:p.Ala100= | |
ENST00000442011.6:c.300C>A | ENSP00000416330.2:p.Ala100= | |
ENST00000504185.5:n.457C>A | ||
ENST00000506699.5:n.365C>A | ||
ENST00000507018.5:c.217C>A | ||
ENST00000515433.1:n.592C>A | ||
NM_000358.2:c.300C>A | NP_000349.1:p.Ala100= | |
NM_000358.3:c.300C>A MANE Select | NP_000349.1:p.Ala100= |