HGVS | Genome Assembly |
---|---|
NC_000005.10:g.146339858T>G , CM000667.2:g.146339858T>G | GRCh38 |
NC_000005.9:g.145719421T>G , CM000667.1:g.145719421T>G | GRCh37 |
NC_000005.8:g.145699614T>G | NCBI36 |
NG_011885.1:g.5835T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000646991.2:c.431T>G MANE Select | ENSP00000495718.1:p.Ile144Ser | |
ENST00000230732.4:c.431T>G | ENSP00000230732.4:p.Ile144Ser | |
NM_002700.2:c.431T>G | NP_002691.1:p.Ile144Ser | |
NM_002700.3:c.431T>G MANE Select | NP_002691.1:p.Ile144Ser |