HGVS | Genome Assembly |
---|---|
NC_000013.11:g.48381408G>T , CM000675.2:g.48381408G>T | GRCh38 |
NC_000013.10:g.48955544G>T , CM000675.1:g.48955544G>T | GRCh37 |
NC_000013.9:g.47853545G>T | NCBI36 |
NG_009009.1:g.82662G>T , LRG_517:g.82662G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000267163.6:c.1660G>T MANE Select | ENSP00000267163.4:p.Glu554Ter | |
ENST00000643064.1:c.159G>T | ||
ENST00000650461.1:c.1660G>T | ENSP00000497193.1:p.Glu554Ter | |
ENST00000267163.4:c.1660G>T | ENSP00000267163.4:p.Glu554Ter | |
NM_000321.2:c.1660G>T , LRG_517t1:c.1660G>T | NP_000312.2:p.Glu554Ter | |
XM_011535171.1:c.1399G>T | XP_011533473.1:p.Glu467Ter | |
XM_011535171.2:c.1399G>T | XP_011533473.1:p.Glu467Ter | |
NM_000321.3:c.1660G>T MANE Select | NP_000312.2:p.Glu554Ter |