HGVS | Genome Assembly |
---|---|
NC_000005.10:g.146339829T>C , CM000667.2:g.146339829T>C | GRCh38 |
NC_000005.9:g.145719392T>C , CM000667.1:g.145719392T>C | GRCh37 |
NC_000005.8:g.145699585T>C | NCBI36 |
NG_011885.1:g.5806T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000646991.2:c.402T>C MANE Select | ENSP00000495718.1:p.Ala134= | |
ENST00000230732.4:c.402T>C | ENSP00000230732.4:p.Ala134= | |
NM_002700.2:c.402T>C | NP_002691.1:p.Ala134= | |
NM_002700.3:c.402T>C MANE Select | NP_002691.1:p.Ala134= |