HGVS | Genome Assembly |
---|---|
NC_000007.14:g.150977861A>T , CM000669.2:g.150977861A>T | GRCh38 |
NC_000007.13:g.150674949A>T , CM000669.1:g.150674949A>T | GRCh37 |
NC_000007.12:g.150305882A>T | NCBI36 |
NG_008916.1:g.5066T>A , LRG_288:g.5066T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000262186.10:c.53T>A MANE Select | ENSP00000262186.5:p.Ile18Asn | |
ENST00000262186.9:c.53T>A | ENSP00000262186.5:p.Ile18Asn | |
ENST00000430723.4:c.-125T>A | ENSP00000387657.4:n.-125T>A | |
ENST00000532957.5:n.276T>A | ||
NM_000238.3:c.53T>A , LRG_288t1:c.53T>A | NP_000229.1:p.Ile18Asn | |
NM_172056.2:c.53T>A , LRG_288t2:c.53T>A | NP_742053.1:p.Ile18Asn | |
XM_011516186.1:c.53T>A | XP_011514488.1:p.Ile18Asn | |
XM_011516186.3:c.53T>A | XP_011514488.1:p.Ile18Asn | |
NM_000238.4:c.53T>A MANE Select | NP_000229.1:p.Ile18Asn |