HGVS | Genome Assembly |
---|---|
NC_000005.10:g.146340155C>G , CM000667.2:g.146340155C>G | GRCh38 |
NC_000005.9:g.145719718C>G , CM000667.1:g.145719718C>G | GRCh37 |
NC_000005.8:g.145699911C>G | NCBI36 |
NG_011885.1:g.6132C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000646991.2:c.728C>G MANE Select | ENSP00000495718.1:p.Ala243Gly | |
ENST00000230732.4:c.728C>G | ENSP00000230732.4:p.Ala243Gly | |
NM_002700.2:c.728C>G | NP_002691.1:p.Ala243Gly | |
NM_002700.3:c.728C>G MANE Select | NP_002691.1:p.Ala243Gly |