HGVS | Genome Assembly |
---|---|
NC_000001.11:g.169525963T>A , CM000663.2:g.169525963T>A | GRCh38 |
NC_000001.10:g.169495201T>A , CM000663.1:g.169495201T>A | GRCh37 |
NC_000001.9:g.167761825T>A | NCBI36 |
NG_011806.1:g.65569A>T , LRG_553:g.65569A>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000367797.9:c.5654A>T MANE Select | ENSP00000356771.3:p.Asn1885Ile | |
ENST00000367796.3:c.5669A>T | ENSP00000356770.3:p.Asn1890Ile | |
ENST00000367797.7:c.5654A>T | ENSP00000356771.3:p.Asn1885Ile | |
NM_000130.4:c.5654A>T , LRG_553t1:c.5654A>T | NP_000121.2:p.Asn1885Ile | |
XM_017000660.2:c.5243A>T | XP_016856149.1:p.Asn1748Ile | |
NM_000130.5:c.5654A>T MANE Select | NP_000121.2:p.Asn1885Ile |