HGVS | Genome Assembly |
---|---|
NC_000015.10:g.84839815A>G , CM000677.2:g.84839815A>G | GRCh38 |
NC_000015.9:g.85383046A>G , CM000677.1:g.85383046A>G | GRCh37 |
NC_000015.8:g.83184050A>G | NCBI36 |
NG_054748.1:g.28185A>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000258888.6:c.536A>G MANE Select | ENSP00000258888.6:p.Gln179Arg | |
ENST00000258888.5:c.1142A>G | ENSP00000258888.5:p.Gln381Arg | |
NM_020778.4:c.1142A>G | NP_065829.3:p.Gln381Arg | |
NM_020778.5:c.536A>G MANE Select | NP_065829.4:p.Gln179Arg |