HGVS | Genome Assembly |
---|---|
NC_000007.14:g.94425658C= , CM000669.2:g.94425658C= | GRCh38 |
NC_000007.13:g.94054970C= , CM000669.1:g.94054970C= | GRCh37 |
NC_000007.12:g.93892906C= | NCBI36 |
NG_007405.1:g.36098C= , LRG_2:g.36098C= |
HGVS | Amino-acid change | |
---|---|---|
ENST00000297268.11:c.2830C= MANE Select | ENSP00000297268.6:p.His944= | |
ENST00000297268.10:c.2830C= | ENSP00000297268.6:p.His944= | |
ENST00000469732.1:n.613C= | ||
ENST00000478215.1:n.389C= | ||
ENST00000481570.5:n.2803C= | ||
ENST00000620463.1:c.2824C= | ENSP00000477719.1:p.His942= | |
NM_000089.3:c.2830C= , LRG_2t1:c.2830C= | NP_000080.2:p.His944= | |
NM_000089.4:c.2830C= MANE Select | NP_000080.2:p.His944= |