HGVS | Genome Assembly |
---|---|
NC_000011.10:g.65868616A>T , CM000673.2:g.65868616A>T | GRCh38 |
NC_000011.9:g.65636087A>T , CM000673.1:g.65636087A>T | GRCh37 |
NC_000011.8:g.65392663A>T | NCBI36 |
NG_012304.2:g.9319T>A | |
NG_053116.1:g.13555A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000307998.11:c.741T>A MANE Select | ENSP00000309953.6:p.Cys247Ter | |
ENST00000307998.10:c.741T>A | ENSP00000309953.6:p.Cys247Ter | |
ENST00000526628.5:n.1307T>A | ||
ENST00000527969.1:n.1426T>A | ||
ENST00000528176.5:c.741T>A | ENSP00000434151.1:p.Cys247Ter | |
ENST00000531005.5:n.1735T>A | ||
ENST00000531972.5:c.741T>A | ENSP00000435295.1:p.Cys247Ter | |
ENST00000532084.5:n.167T>A | ||
NM_016938.4:c.741T>A | NP_058634.4:p.Cys247Ter | |
NR_037718.1:n.1000T>A | ||
NM_016938.5:c.741T>A MANE Select | NP_058634.4:p.Cys247Ter | |
NR_037718.2:n.866T>A |