HGVS | Genome Assembly |
---|---|
NC_000004.12:g.119164324G>T , CM000666.2:g.119164324G>T | GRCh38 |
NC_000004.11:g.120085479G>T , CM000666.1:g.120085479G>T | GRCh37 |
NC_000004.10:g.120304927G>T | NCBI36 |
NG_029747.1:g.33541G>T , LRG_396:g.33541G>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000307128.6:c.490G>T MANE Select | ENSP00000306997.6:p.Glu164Ter | |
ENST00000307128.5:c.490G>T | ENSP00000306997.5:p.Glu164Ter | |
NM_016599.4:c.490G>T , LRG_396t1:c.490G>T | NP_057683.1:p.Glu164Ter | |
XM_006714234.2:c.490G>T | XP_006714297.1:p.Glu164Ter | |
XM_006714234.4:c.490G>T | XP_006714297.1:p.Glu164Ter | |
NM_016599.5:c.490G>T MANE Select | NP_057683.1:p.Glu164Ter |