HGVS | Genome Assembly |
---|---|
NC_000019.10:g.15540518T>A , CM000681.2:g.15540518T>A | GRCh38 |
NC_000019.9:g.15651329T>A , CM000681.1:g.15651329T>A | GRCh37 |
NC_000019.8:g.15512329T>A | NCBI36 |
NG_007987.1:g.36994T>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000269703.8:c.740T>A MANE Select | ENSP00000269703.1:p.Leu247Ter | |
ENST00000269703.7:c.740T>A | ENSP00000269703.1:p.Leu247Ter | |
ENST00000601005.2:c.740T>A | ENSP00000469866.1:p.Leu247Ter | |
NM_173483.3:c.740T>A | NP_775754.2:p.Leu247Ter | |
XM_011527692.1:c.740T>A | XP_011525994.1:p.Leu247Ter | |
XM_011527693.1:c.740T>A | XP_011525995.1:p.Leu247Ter | |
XM_011527692.2:c.740T>A | XP_011525994.1:p.Leu247Ter | |
XM_011527693.2:c.740T>A | XP_011525995.1:p.Leu247Ter | |
NM_173483.4:c.740T>A MANE Select | NP_775754.2:p.Leu247Ter |