HGVS | Genome Assembly |
---|---|
NC_000005.10:g.71719341G>A , CM000667.2:g.71719341G>A | GRCh38 |
NC_000005.9:g.71015168G>A , CM000667.1:g.71015168G>A | GRCh37 |
NC_000005.8:g.71050924G>A | NCBI36 |
NG_015988.1:g.5179G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000296777.5:c.48G>A MANE Select | ENSP00000296777.4:p.Leu16= | |
ENST00000296777.4:c.48G>A | ENSP00000296777.4:p.Leu16= | |
NM_004291.3:c.48G>A | NP_004282.1:p.Leu16= | |
NM_004291.4:c.48G>A MANE Select | NP_004282.1:p.Leu16= |