HGVS | Genome Assembly |
---|---|
NC_000004.12:g.4860220C>A , CM000666.2:g.4860220C>A | GRCh38 |
NC_000004.11:g.4861947C>A , CM000666.1:g.4861947C>A | GRCh37 |
NC_000004.10:g.4912848C>A | NCBI36 |
NG_008121.1:g.5556C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000382723.5:c.321C>A MANE Select | ENSP00000372170.4:p.Asp107Glu | |
ENST00000382723.4:c.321C>A | ENSP00000372170.4:p.Asp107Glu | |
NM_002448.3:c.321C>A MANE Select | NP_002439.2:p.Asp107Glu |