HGVS | Genome Assembly |
---|---|
NC_000011.10:g.65868607G>T , CM000673.2:g.65868607G>T | GRCh38 |
NC_000011.9:g.65636078G>T , CM000673.1:g.65636078G>T | GRCh37 |
NC_000011.8:g.65392654G>T | NCBI36 |
NG_012304.2:g.9328C>A | |
NG_053116.1:g.13546G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000307998.11:c.750C>A MANE Select | ENSP00000309953.6:p.Ser250= | |
ENST00000307998.10:c.750C>A | ENSP00000309953.6:p.Ser250= | |
ENST00000526628.5:n.1316C>A | ||
ENST00000527969.1:n.1435C>A | ||
ENST00000528176.5:c.750C>A | ENSP00000434151.1:p.Ser250= | |
ENST00000531005.5:n.1744C>A | ||
ENST00000531972.5:c.750C>A | ENSP00000435295.1:p.Ser250= | |
ENST00000532084.5:n.176C>A | ||
NM_016938.4:c.750C>A | NP_058634.4:p.Ser250= | |
NR_037718.1:n.1009C>A | ||
NM_016938.5:c.750C>A MANE Select | NP_058634.4:p.Ser250= | |
NR_037718.2:n.875C>A |