HGVS | Genome Assembly |
---|---|
NC_000019.10:g.3590157C>A , CM000681.2:g.3590157C>A | GRCh38 |
NC_000019.9:g.3590155C>A , CM000681.1:g.3590155C>A | GRCh37 |
NC_000019.8:g.3541155C>A | NCBI36 |
NG_031943.1:g.9587C>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000644452.3:c.906C>A MANE Select | ENSP00000493901.2:p.Ala302= | |
ENST00000644946.1:c.919C>A | ENSP00000495068.1:p.Arg307Ser | |
ENST00000322315.5:c.906C>A | ENSP00000319254.5:p.Ala302= | |
NM_133261.2:c.906C>A | NP_573568.1:p.Ala302= | |
XM_005259492.2:c.919C>A | XP_005259549.1:p.Arg307Ser | |
XM_005259492.3:c.919C>A | XP_005259549.1:p.Arg307Ser | |
NM_133261.3:c.906C>A MANE Select | NP_573568.1:p.Ala302= |