HGVS | Genome Assembly |
---|---|
NC_000019.10:g.43552170C= , CM000681.2:g.43552170C= | GRCh38 |
NC_000019.9:g.44056322C= , CM000681.1:g.44056322C= | GRCh37 |
NC_000019.8:g.48748162C= | NCBI36 |
NG_033799.1:g.28409G= , LRG_784:g.28409G= |
HGVS | Amino-acid change | |
---|---|---|
ENST00000262887.10:c.929G= MANE Select | ENSP00000262887.5:p.Arg310= | |
ENST00000262887.9:c.929G= | ENSP00000262887.4:p.Arg310= | |
ENST00000543982.5:c.836G= | ENSP00000443671.1:p.Arg279= | |
ENST00000595789.5:n.1050G= | ||
ENST00000597811.5:c.539G= | ||
ENST00000598422.1:n.609G= | ||
NM_006297.2:c.929G= , LRG_784t1:c.929G= | NP_006288.2:p.Arg310= | |
NM_006297.3:c.929G= MANE Select | NP_006288.2:p.Arg310= |