HGVS | Genome Assembly |
---|---|
NC_000011.10:g.65868621C>A , CM000673.2:g.65868621C>A | GRCh38 |
NC_000011.9:g.65636092C>A , CM000673.1:g.65636092C>A | GRCh37 |
NC_000011.8:g.65392668C>A | NCBI36 |
NG_012304.2:g.9314G>T | |
NG_053116.1:g.13560C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000307998.11:c.736G>T MANE Select | ENSP00000309953.6:p.Glu246Ter | |
ENST00000307998.10:c.736G>T | ENSP00000309953.6:p.Glu246Ter | |
ENST00000526628.5:n.1302G>T | ||
ENST00000527969.1:n.1421G>T | ||
ENST00000528176.5:c.736G>T | ENSP00000434151.1:p.Glu246Ter | |
ENST00000531005.5:n.1730G>T | ||
ENST00000531972.5:c.736G>T | ENSP00000435295.1:p.Glu246Ter | |
ENST00000532084.5:n.162G>T | ||
NM_016938.4:c.736G>T | NP_058634.4:p.Glu246Ter | |
NR_037718.1:n.995G>T | ||
NM_016938.5:c.736G>T MANE Select | NP_058634.4:p.Glu246Ter | |
NR_037718.2:n.861G>T |