HGVS | Genome Assembly |
---|---|
NC_000008.11:g.19954227C>G , CM000670.2:g.19954227C>G | GRCh38 |
NC_000008.10:g.19811738C>G , CM000670.1:g.19811738C>G | GRCh37 |
NC_000008.9:g.19856018C>G | NCBI36 |
NG_008855.1:g.20157C>G | |
NG_008855.2:g.57511C>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000650287.1:c.649C>G MANE Select | ENSP00000497642.1:p.Pro217Ala | |
ENST00000311322.8:c.649C>G | ENSP00000309757.6:p.Pro217Ala | |
NM_000237.2:c.649C>G | NP_000228.1:p.Pro217Ala | |
NM_000237.3:c.649C>G MANE Select | NP_000228.1:p.Pro217Ala |