HGVS | Genome Assembly |
---|---|
NC_000010.11:g.94988985C= , CM000672.2:g.94988985C= | GRCh38 |
NC_000010.10:g.96748742C= , CM000672.1:g.96748742C= | GRCh37 |
NC_000010.9:g.96738732C= | NCBI36 |
NG_008385.1:g.55328C= | |
NG_008385.2:g.55828C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000260682.8:c.1430C= MANE Select | ENSP00000260682.6:p.Ala477= | |
ENST00000643112.1:c.*439C= | ENSP00000496202.1:n.*439C= | |
ENST00000260682.6:c.1430C= | ENSP00000260682.6:p.Ala477= | |
NM_000771.3:c.1430C= | NP_000762.2:p.Ala477= | |
NM_000771.4:c.1430C= MANE Select | NP_000762.2:p.Ala477= |