HGVS | Genome Assembly |
---|---|
NC_000007.14:g.150977862T>A , CM000669.2:g.150977862T>A | GRCh38 |
NC_000007.13:g.150674950T>A , CM000669.1:g.150674950T>A | GRCh37 |
NC_000007.12:g.150305883T>A | NCBI36 |
NG_008916.1:g.5065A>T , LRG_288:g.5065A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000262186.10:c.52A>T MANE Select | ENSP00000262186.5:p.Ile18Phe | |
ENST00000262186.9:c.52A>T | ENSP00000262186.5:p.Ile18Phe | |
ENST00000430723.4:c.-126A>T | ENSP00000387657.4:n.-126A>T | |
ENST00000532957.5:n.275A>T | ||
NM_000238.3:c.52A>T , LRG_288t1:c.52A>T | NP_000229.1:p.Ile18Phe | |
NM_172056.2:c.52A>T , LRG_288t2:c.52A>T | NP_742053.1:p.Ile18Phe | |
XM_011516186.1:c.52A>T | XP_011514488.1:p.Ile18Phe | |
XM_011516186.3:c.52A>T | XP_011514488.1:p.Ile18Phe | |
NM_000238.4:c.52A>T MANE Select | NP_000229.1:p.Ile18Phe |