HGVS | Genome Assembly |
---|---|
NC_000005.10:g.146340156T= , CM000667.2:g.146340156T= | GRCh38 |
NC_000005.9:g.145719719T= , CM000667.1:g.145719719T= | GRCh37 |
NC_000005.8:g.145699912T= | NCBI36 |
NG_011885.1:g.6133T= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000646991.2:c.729T= MANE Select | ENSP00000495718.1:p.Ala243= | |
ENST00000230732.4:c.729T= | ENSP00000230732.4:p.Ala243= | |
NM_002700.2:c.729T= | NP_002691.1:p.Ala243= | |
NM_002700.3:c.729T= MANE Select | NP_002691.1:p.Ala243= |