HGVS | Genome Assembly |
---|---|
NC_000019.10:g.43552263G>C , CM000681.2:g.43552263G>C | GRCh38 |
NC_000019.9:g.44056415G>C , CM000681.1:g.44056415G>C | GRCh37 |
NC_000019.8:g.48748255G>C | NCBI36 |
NG_033799.1:g.28316C>G , LRG_784:g.28316C>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000262887.10:c.836C>G MANE Select | ENSP00000262887.5:p.Thr279Ser | |
ENST00000262887.9:c.836C>G | ENSP00000262887.4:p.Thr279Ser | |
ENST00000543982.5:c.743C>G | ENSP00000443671.1:p.Thr248Ser | |
ENST00000595789.5:n.957C>G | ||
ENST00000597811.5:c.446C>G | ||
ENST00000598165.5:c.857C>G | ENSP00000470045.1:p.Thr286Ser | |
ENST00000598422.1:n.516C>G | ||
NM_006297.2:c.836C>G , LRG_784t1:c.836C>G | NP_006288.2:p.Thr279Ser | |
NM_006297.3:c.836C>G MANE Select | NP_006288.2:p.Thr279Ser |