HGVS | Genome Assembly |
---|---|
NC_000005.10:g.136046414G>T , CM000667.2:g.136046414G>T | GRCh38 |
NC_000005.9:g.135382103G>T , CM000667.1:g.135382103G>T | GRCh37 |
NC_000005.8:g.135410002G>T | NCBI36 |
NG_012646.1:g.22520G>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000442011.7:c.378G>T MANE Select | ENSP00000416330.2:p.Glu126Asp | |
ENST00000442011.6:c.378G>T | ENSP00000416330.2:p.Glu126Asp | |
ENST00000504185.5:n.535G>T | ||
ENST00000506699.5:n.443G>T | ||
ENST00000507018.5:c.295G>T | ||
ENST00000515433.1:n.670G>T | ||
NM_000358.2:c.378G>T | NP_000349.1:p.Glu126Asp | |
NM_000358.3:c.378G>T MANE Select | NP_000349.1:p.Glu126Asp |