HGVS | Genome Assembly |
---|---|
NC_000005.10:g.136046352C>A , CM000667.2:g.136046352C>A | GRCh38 |
NC_000005.9:g.135382041C>A , CM000667.1:g.135382041C>A | GRCh37 |
NC_000005.8:g.135409940C>A | NCBI36 |
NG_012646.1:g.22458C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000442011.7:c.316C>A MANE Select | ENSP00000416330.2:p.Leu106Ile | |
ENST00000442011.6:c.316C>A | ENSP00000416330.2:p.Leu106Ile | |
ENST00000504185.5:n.473C>A | ||
ENST00000506699.5:n.381C>A | ||
ENST00000507018.5:c.233C>A | ||
ENST00000515433.1:n.608C>A | ||
NM_000358.2:c.316C>A | NP_000349.1:p.Leu106Ile | |
NM_000358.3:c.316C>A MANE Select | NP_000349.1:p.Leu106Ile |