HGVS | Genome Assembly |
---|---|
NC_000004.12:g.119164322T>A , CM000666.2:g.119164322T>A | GRCh38 |
NC_000004.11:g.120085477T>A , CM000666.1:g.120085477T>A | GRCh37 |
NC_000004.10:g.120304925T>A | NCBI36 |
NG_029747.1:g.33539T>A , LRG_396:g.33539T>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000307128.6:c.488T>A MANE Select | ENSP00000306997.6:p.Leu163Ter | |
ENST00000307128.5:c.488T>A | ENSP00000306997.5:p.Leu163Ter | |
NM_016599.4:c.488T>A , LRG_396t1:c.488T>A | NP_057683.1:p.Leu163Ter | |
XM_006714234.2:c.488T>A | XP_006714297.1:p.Leu163Ter | |
XM_006714234.4:c.488T>A | XP_006714297.1:p.Leu163Ter | |
NM_016599.5:c.488T>A MANE Select | NP_057683.1:p.Leu163Ter |