HGVS | Genome Assembly |
---|---|
NC_000004.12:g.119164315G>A , CM000666.2:g.119164315G>A | GRCh38 |
NC_000004.11:g.120085470G>A , CM000666.1:g.120085470G>A | GRCh37 |
NC_000004.10:g.120304918G>A | NCBI36 |
NG_029747.1:g.33532G>A , LRG_396:g.33532G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000307128.6:c.481G>A MANE Select | ENSP00000306997.6:p.Glu161Lys | |
ENST00000307128.5:c.481G>A | ENSP00000306997.5:p.Glu161Lys | |
NM_016599.4:c.481G>A , LRG_396t1:c.481G>A | NP_057683.1:p.Glu161Lys | |
XM_006714234.2:c.481G>A | XP_006714297.1:p.Glu161Lys | |
XM_006714234.4:c.481G>A | XP_006714297.1:p.Glu161Lys | |
NM_016599.5:c.481G>A MANE Select | NP_057683.1:p.Glu161Lys |