HGVS | Genome Assembly |
---|---|
NC_000011.10:g.65868617C= , CM000673.2:g.65868617C= | GRCh38 |
NC_000011.9:g.65636088C= , CM000673.1:g.65636088C= | GRCh37 |
NC_000011.8:g.65392664C= | NCBI36 |
NG_012304.2:g.9318G= | |
NG_053116.1:g.13556C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000307998.11:c.740G= MANE Select | ENSP00000309953.6:p.Cys247= | |
ENST00000307998.10:c.740G= | ENSP00000309953.6:p.Cys247= | |
ENST00000526628.5:n.1306G= | ||
ENST00000527969.1:n.1425G= | ||
ENST00000528176.5:c.740G= | ENSP00000434151.1:p.Cys247= | |
ENST00000531005.5:n.1734G= | ||
ENST00000531972.5:c.740G= | ENSP00000435295.1:p.Cys247= | |
ENST00000532084.5:n.166G= | ||
NM_016938.4:c.740G= | NP_058634.4:p.Cys247= | |
NR_037718.1:n.999G= | ||
NM_016938.5:c.740G= MANE Select | NP_058634.4:p.Cys247= | |
NR_037718.2:n.865G= |