HGVS | Genome Assembly |
---|---|
NC_000019.10:g.43552167G>C , CM000681.2:g.43552167G>C | GRCh38 |
NC_000019.9:g.44056319G>C , CM000681.1:g.44056319G>C | GRCh37 |
NC_000019.8:g.48748159G>C | NCBI36 |
NG_033799.1:g.28412C>G , LRG_784:g.28412C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000262887.10:c.932C>G MANE Select | ENSP00000262887.5:p.Ala311Gly | |
ENST00000262887.9:c.932C>G | ENSP00000262887.4:p.Ala311Gly | |
ENST00000543982.5:c.839C>G | ENSP00000443671.1:p.Ala280Gly | |
ENST00000595789.5:n.1053C>G | ||
ENST00000597811.5:c.542C>G | ||
ENST00000598422.1:n.612C>G | ||
NM_006297.2:c.932C>G , LRG_784t1:c.932C>G | NP_006288.2:p.Ala311Gly | |
NM_006297.3:c.932C>G MANE Select | NP_006288.2:p.Ala311Gly |