HGVS | Genome Assembly |
---|---|
NC_000005.10:g.136046473A>C , CM000667.2:g.136046473A>C | GRCh38 |
NC_000005.9:g.135382162A>C , CM000667.1:g.135382162A>C | GRCh37 |
NC_000005.8:g.135410061A>C | NCBI36 |
NG_012646.1:g.22579A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000442011.7:c.437A>C MANE Select | ENSP00000416330.2:p.Glu146Ala | |
ENST00000442011.6:c.437A>C | ENSP00000416330.2:p.Glu146Ala | |
ENST00000506699.5:n.502A>C | ||
ENST00000507018.5:c.354A>C | ||
ENST00000515433.1:n.729A>C | ||
NM_000358.2:c.437A>C | NP_000349.1:p.Glu146Ala | |
NM_000358.3:c.437A>C MANE Select | NP_000349.1:p.Glu146Ala |