HGVS | Genome Assembly |
---|---|
NC_000005.10:g.10286406G>T , CM000667.2:g.10286406G>T | GRCh38 |
NC_000005.9:g.10286518G>T , CM000667.1:g.10286518G>T | GRCh37 |
NC_000005.8:g.10339518G>T | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000296658.4:c.414C>A MANE Select | ENSP00000296658.3:p.Val138= | |
ENST00000296658.3:c.414C>A | ENSP00000296658.3:p.Val138= | |
ENST00000506821.1:n.668C>A | ||
ENST00000510532.5:n.482C>A | ||
ENST00000511963.5:n.522C>A | ||
NM_138809.3:c.414C>A | NP_620164.1:p.Val138= | |
NM_138809.4:c.414C>A MANE Select | NP_620164.1:p.Val138= |