HGVS | Genome Assembly |
---|---|
NC_000019.10:g.43552266G>C , CM000681.2:g.43552266G>C | GRCh38 |
NC_000019.9:g.44056418G>C , CM000681.1:g.44056418G>C | GRCh37 |
NC_000019.8:g.48748258G>C | NCBI36 |
NG_033799.1:g.28313C>G , LRG_784:g.28313C>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000262887.10:c.833C>G MANE Select | ENSP00000262887.5:p.Pro278Arg | |
ENST00000262887.9:c.833C>G | ENSP00000262887.4:p.Pro278Arg | |
ENST00000543982.5:c.740C>G | ENSP00000443671.1:p.Pro247Arg | |
ENST00000595789.5:n.954C>G | ||
ENST00000597811.5:c.443C>G | ||
ENST00000598165.5:c.854C>G | ENSP00000470045.1:p.Pro285Arg | |
ENST00000598422.1:n.513C>G | ||
NM_006297.2:c.833C>G , LRG_784t1:c.833C>G | NP_006288.2:p.Pro278Arg | |
NM_006297.3:c.833C>G MANE Select | NP_006288.2:p.Pro278Arg |