HGVS | Genome Assembly |
---|---|
NC_000001.11:g.159304107G>T , CM000663.2:g.159304107G>T | GRCh38 |
NC_000001.10:g.159273897G>T , CM000663.1:g.159273897G>T | GRCh37 |
NC_000001.9:g.157540521G>T | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000693622.1:c.256G>T MANE Select | ENSP00000509626.1:p.Glu86Ter | |
ENST00000368114.1:c.157G>T | ENSP00000357096.1:p.Glu53Ter | |
ENST00000368115.5:c.256G>T | ENSP00000357097.1:p.Glu86Ter | |
NM_002001.3:c.256G>T | NP_001992.1:p.Glu86Ter | |
NM_001387280.1:c.256G>T MANE Select | NP_001374209.1:p.Glu86Ter | |
NM_001387281.1:c.76+1233G>T | NP_001374210.1:n.76+1233G>T | |
NM_001387282.1:c.157G>T | NP_001374211.1:p.Glu53Ter | |
NM_002001.4:c.256G>T | NP_001992.1:p.Glu86Ter |