HGVS | Genome Assembly |
---|---|
NC_000010.11:g.94981197G>T , CM000672.2:g.94981197G>T | GRCh38 |
NC_000010.10:g.96740954G>T , CM000672.1:g.96740954G>T | GRCh37 |
NC_000010.9:g.96730944G>T | NCBI36 |
NG_008385.1:g.47540G>T | |
NG_008385.2:g.48040G>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000260682.8:c.976G>T MANE Select | ENSP00000260682.6:p.Glu326Ter | |
ENST00000643112.1:c.834G>T | ENSP00000496202.1:p.Lys278Asn | |
ENST00000260682.6:c.976G>T | ENSP00000260682.6:p.Glu326Ter | |
NM_000771.3:c.976G>T | NP_000762.2:p.Glu326Ter | |
NM_000771.4:c.976G>T MANE Select | NP_000762.2:p.Glu326Ter |