HGVS | Genome Assembly |
---|---|
NC_000006.12:g.31270369C>G , CM000668.2:g.31270369C>G | GRCh38 |
NC_000006.11:g.31238146C>G , CM000668.1:g.31238146C>G | GRCh37 |
NC_000006.10:g.31346125C>G | NCBI36 |
NG_029422.2:g.6763G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000376228.10:c.736G>C MANE Select | ENSP00000365402.5:p.Glu246Gln | |
ENST00000376228.9:c.736G>C | ENSP00000365402.5:p.Glu246Gln | |
ENST00000376237.8:c.*323G>C | ENSP00000365412.4:n.*323G>C | |
ENST00000383329.7:c.736G>C | ENSP00000372819.3:p.Glu246Gln | |
ENST00000415537.1:c.665-38G>C | ||
ENST00000470363.5:n.54G>C | ||
ENST00000487245.5:n.1095G>C | ||
ENST00000495835.1:n.925G>C | ||
NM_002117.5:c.736G>C | NP_002108.4:p.Glu246Gln | |
NM_002117.6:c.736G>C MANE Select | NP_002108.4:p.Glu246Gln |