HGVS | Genome Assembly |
---|---|
NC_000002.12:g.189571754T>A , CM000664.2:g.189571754T>A | GRCh38 |
NC_000002.11:g.190436480T>A , CM000664.1:g.190436480T>A | GRCh37 |
NC_000002.10:g.190144725T>A | NCBI36 |
NG_009027.1:g.14058A>T , LRG_837:g.14058A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000261024.7:c.475A>T MANE Select | ENSP00000261024.3:p.Ile159Phe | |
ENST00000261024.6:c.475A>T | ENSP00000261024.2:p.Ile159Phe | |
ENST00000427241.5:c.475A>T | ENSP00000390005.1:p.Ile159Phe | |
NM_014585.5:c.475A>T , LRG_837t1:c.475A>T | NP_055400.1:p.Ile159Phe | |
XM_005246505.1:c.355A>T | XP_005246562.1:p.Ile119Phe | |
XM_005246505.2:c.355A>T | XP_005246562.1:p.Ile119Phe | |
XM_017003938.2:c.355A>T | XP_016859427.1:p.Ile119Phe | |
NM_014585.6:c.475A>T MANE Select | NP_055400.1:p.Ile159Phe |